Thalassemia Faq's

Recently, increasing reports suggest that up to 5% of patients with beta-thalassemias produce fetal hemoglobin (HbF), and use of hydroxyurea also has a tendency to increase the production of HbF, by as yet unexplained mechanisms.[citation needed]

Giving a happy ending to a poignant family tale and raising fresh hope of leveraging stem cell therapy, a group of doctors and specialists in Chennai and Coimbatore have registered the first successful treatment of thalassaemia in a child using a sibling's umbilical cord blood.

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Life Expectancy Increased:

Due to improved treatments, many patients are living longer, but longer life expectancy has led to new problems. Thalassemia patients are now struggling with secondary conditions such as heart disease, hepatitis, liver cancer, osteoporosis, and fertility problems.

Thalassemia in Italy:

In Italy, the number of thalassemia major patients is estimated to be between 5000 and 8000.

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Being a carrier of the disease may confer a degree of protection against malaria, and is quite common among people from Italian or Greek origin, and also in some African and Indian regions. This is probably by making the red blood cells more susceptible to the less lethal species Plasmodium vivax, simultaneously making the host RBC environment unsuitable for the merozoites of the lethal strain Plasmodium falciparum. This is believed to be a selective survival advantage for patients with the various thalassemia traits. In that respect it resembles another genetic disorder, sickle-cell disease.

Epidemiological evidence from Kenya suggests another reason: protection against severe anemia may be the advantage.

People diagnosed with heterozygous (carrier) Beta-Thalassemia have some protection against coronary heart disease.

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• A well-balanced diet with adequate folic acid supply is a necessity. Foods with high iron content should be avoided, particularly meat because heme iron is especially well absorbed. Vitamin C assists absorption of dietary iron; patients should avoid co-ingesting vitamin C and iron-rich foods.
• Alternatively, drinking tea with iron-rich foods helps chelate some of the iron before it is absorbed in the bowels.

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• Many patients with thalassemia intermedia should be able to tolerate most daily activities. However, once the anemia worsens, exercise intolerance develops and may represent a warning sign indicating the need for initiation of blood transfusions.
• Massive splenomegaly has been observed in severe cases and is a cause for limiting the patient's activity for fear of injury to the abdomen causing rupture of the spleen.
• Regular transfusions decrease the size of the spleen in most instances, allowing splenectomy to be avoided whenever possible.

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• Patients in whom thalassemia is suspected should be seen and evaluated by a hematologist.
• Consultation with a cardiologist is indicated to evaluate cardiac function and monitor potential complications due to the anemia, transfusion, or iron overload.
• Consultation with an endocrinologist is also indicated for evaluation of possible involvement of various endocrine glands, which could result in diabetes mellitus, thyroid disorder, or growth retardation.
• Patients should be seen by a gastroenterologist for diagnosis and management of liver complications.

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• Splenectomy is frequently recommended for patients who are no longer able to maintain an adequate Hb level. It is usually performed to restore the Hb steady state in patients who are not receiving blood transfusions and frequently succeeds in averting the need for regular transfusions.
• Observations and case reports have shown that splenectomy in such patients may cause serious venous thrombotic events, ranging from deep vein thrombosis to pulmonary thrombotic lesions complicated by pulmonary hypertension. Several reports of serious thrombotic events such as transient ischemic attacks associated with hemiparesis and intracranial manifestations of Moyamoya syndrome were reported postsplenectomy in patients with thalassemia intermedia.For this reason, one should delay or reconsider such a procedure whenever possible. This is supported by the fact that many children who underwent splenectomy to avoid becoming transfusion dependent experienced only a transient effect, and most later required regular transfusions.
• Placement of a central vascular access catheter in patients with severe disease is very helpful for blood transfusions, and laboratory work, especially when accessing a patient's peripheral veins becomes very difficult.
• In the rare patient with large tumorlike masses that compress vital organs, surgical resection rather than radiation therapy is usually preferred.
• Liver biopsy is indicated in the patient receiving chelation therapy for hemosiderosis to evaluate the degree of liver involvement and iron overload.

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The treatment of most cases of thalassemia intermedia involves close monitoring and observation.

• Patients with satisfactory hemoglobin (Hb) levels are frequently monitored.
• These patients usually require blood transfusions only on certain occasions such as the presence of intercurrent infections, hypersplenism, or other illnesses.
• If patients can no longer maintain an Hb level of more than 6 g/dL, they are either started on a regimen of regular blood transfusions or a different option, such as splenectomy, should be tried. Patients with evidence of hypersplenism have a good chance to have their need for blood transfusion reduced or totally eliminated; this might last for months or years. Others may try to administer one of the drugs that may induce stress erythropoiesis and raise Hb levels. Hydroxyurea has been frequently used for this purpose. In separate studies on a large number of patients, a response rate exceeding 75% was reported after long-term therapy. However, this high rate of response was not confirmed by other studies until a study on a small number of patients with β thalassemia major and intermedia treated with hydroxyurea demonstrated a response rate of more than 82%.
  • The initial regimen includes transfusion of 10-15 mL of packed red blood cells (PRBC) every 4-5 weeks to keep the Hb level over 10 g/dL.
  • Blood transfusions should be leukocyte poor to avoid sensitization because such patients have the potential of becoming transfusion dependent in the future.
  • Patients should be checked and typed for minor blood groups to avoid further difficulties in providing appropriate blood for them in the future.
  • Identification of a small group of dedicated donors minimizes the risk of viral exposure and alloimmunization.
• Iron status must be carefully monitored, and patients with iron overload should be treated with an aggressive chelation regimen as soon as indicated.
  • A popular chelation regimen includes administration of deferoxamine 5 days per week as a subcutaneous infusion over 8-12 hours. This regimen revolutionized the treatment of β thalassemia major in patients regularly receiving PRBC transfusions and resulted in longer survival and near-normal quality of life. An oral iron chelator, deferasirox (Exjade), has been in use in the United States for some time now. This agent has a long half-life and, for this reason, is orally administered once daily. Several studies have confirmed the long-term efficacy and safety of this agent. It is now much more popular and, due to the ease and convenience of administration and better compliance, is probably replacing deferoxamine
  • A similar dose is often administered at the time of blood transfusions to help bind the transfused iron (from hemolyzed RBCs).
• Nutritional deficiencies should be addressed and treated.
  • A folic acid supplement should be administered.
  • Vitamin C supplementation has been effective in enhancing the efficiency of chelating iron from tissues.
• Patients who have undergone a splenectomy should be placed on prophylactic antibiotics and be treated empirically for any signs of infection or fever while awaiting the results of blood cultures.
• Appropriate vaccinations, including the polyvalent polysaccharide pneumococcal, the Haemophilus influenzae type b, and the quadrivalent meningococcal vaccines, should be administered to patients 1-2 weeks before splenectomy.
• Patients with severe β thalassemia intermedia are prone to infection with Yersinia enterocolitica, similar to individuals with the severe forms of thalassemia major. For this reason, patients who develop fever without clear cause should receive appropriate treatment even if culture results are negative.
• Young children should have their growth and development closely monitored; any deviation from normal should alert the physician to further investigate the need for blood transfusions.
• Failure to thrive, exercise intolerance, bone deformities and fractures are all potential complications; the health care provider should always look for ways to prevent these complications or at least identify and treat them early with regular blood transfusions, which are frequently effective in reversing or preventing their progress.
• In patients with severe thalassemia intermedia who require aggressive therapy to sustain life, bone marrow transplant, similar to that performed in patients with thalassemia major, is a reasonable alternative to transfusion and chelation if a matched sibling donor is available.
• Many studies have shown that patients with thalassemia intermedia who are not on regular blood transfusion because of their milder symptoms nevertheless develop major complications related to their chronic anemia and ineffective erythropoiesis (IE). Considering the cost-benefit balance of regular treatment in patients with thalassemia major, most patients with thalassemia intermedia would apparently benefit from similar therapy to prevent the complications, rather than waiting to deal with such complications when they occur.

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Required for DNA synthesis; therefore, patients with all conditions associated with rapid cellular turnover, such as hyperactive marrow in thalassemia, have greatly increased demand. Because use of folic acid in hemolytic anemias is extreme, deficiency states are fairly common in most of these patients. Patients who do not receive folic acid supplementation may develop megaloblastic anemia, increasing the severity of the original disease process.

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Pregnancy

A - Fetal risk not revealed in controlled studies in humans

Precautions

Pregnancy category C if dose exceeds RDA; benzyl alcohol may be contained in some products as a preservative (associated with a fatal gasping syndrome in premature infants); resistance to treatment may occur in patients with alcoholism and deficiencies of other vitamins.

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Vitamin C has been shown to enhance the function of deferoxamine by keeping iron in a form that can be chelated. When administered with deferoxamine, allows more iron to be removed.

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Pregnancy

A - Fetal risk not revealed in controlled studies in humans

Precautions

Use in patients with severe iron overload may induce a short-term deterioration with acute cardiac toxicity

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These agents are compounds that are present in small amounts in food and are essential for normal metabolism, cell function, and healthy tissues.

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Chelates iron from ferritin and hemosiderin but not from transferrin, cytochrome, or Hb. Helps prevent damage to liver and bone marrow from iron deposition.

Dosage:

Adult

1000 mg IV may be administered at a rate not to exceed 15 mg/kg/h; follow by a dose of 500 mg q4h for 2 doses; may administer additional IV infusion slowly over 24 h; not to exceed 6000 mg/d

Pediatric

20-40 mg/kg/d SC by infusion pump over 8-12 h 5 d/wk
With blood transfusions: 1-2 g IV slow infusion; not to exceed infusion rate of 15 mg/kg/h

Interactions:

Can cause loss of consciousness when administered with prochlorperazine

Contraindications:

Documented hypersensitivity; patients that do not have acute iron poisoning; severe renal disease and anuria (dose reduction after the loading dose should be considered in these circumstances)

Precautions:

Pregnancy

C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus

Precautions

Tachycardia, hypotension, and shock may occur in patients receiving long-term therapy and could add to the cardiovascular collapse due to iron toxicity; GI adverse effects of the drug include abdominal discomfort, nausea, vomiting, and diarrhea, which may add to the symptoms of acute iron toxicity; flushing and fever are reported; increased susceptibility to Y enterocolitica infection.

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Tab for oral susp. Oral iron chelation agent demonstrated to reduce liver iron concentration in adults and children who receive repeated RBC transfusions. Binds iron with high affinity in a 2:1 ratio. Approved to treat chronic iron overload due to multiple blood transfusions. Treatment initiation recommended with evidence of chronic iron overload (ie, transfusion of about 100 mL/kg packed RBCs [about 20 U for 40-kg person] and serum ferritin level consistently >1000 mcg/L).

Dosage:

Adult

Initial: 20 mg/kg/d PO on empty stomach 30 min ac; as initial dose calculate dose to nearest whole tab
Maintenance: Adjust dose by 5- to 10-mg/kg/d increments q3-6mo according to serum ferritin level trends; not to exceed 30 mg/kg/d
Note: Dissolve tab completely in water, orange juice, or apple juice, then immediately drink susp; resuspend any remaining residue in small volume of liquid and swallow

Pediatric

Chelating agents are an integral part of successful treatment of thalassemia. They remove excess iron deposits that are the main cause of long-term morbidity and mortality in this condition.

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Antipyretic effect through action on hypothalamic heat-regulating center. Although equal to aspirin in action, preferred because it has fewer adverse effects.

Dosage:

Adult

325-650 mg PO 30 min before transfusion

Pediatric

10-15 mg/kg/dose PO 30 min before transfusion

Interactions:

Rifampin can reduce analgesic effects of acetaminophen; coadministration with barbiturates, carbamazepine, hydantoins, and isoniazid may increase hepatotoxicity.

Contraindications:

Documented hypersensitivity

Precautions:

Pregnancy

B - Fetal risk not confirmed in studies in humans but has been shown in some studies in animals

Precautions

Hepatotoxicity possible in people with chronic alcoholism following various dose levels; severe or recurrent pain or high or continued fever may indicate a serious illness; APAP is contained in many OTC products, and combined use with these products may result in cumulative APAP doses exceeding recommended maximum dose.

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These agents can help prevent febrile reactions in patients who are frequently transfused and thus may develop sensitization to blood products.

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MOA has been known for many years. In newborn or premature infants, in particular, deficiency has resulted in peculiar red blood cell morphology, leading to hemolysis; these changes are reversed by vitamin E. Peroxidation of membrane lipids by various oxidants, including iron-mediated oxygen radicals, is the main cause of this hemolysis and can be prevented by antioxidants such as vitamin E.

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Pregnancy

A - Fetal risk not revealed in controlled studies in humans

Precautions

Pregnancy category C if dose exceeds RDA; vitamin E may induce vitamin K deficiency; necrotizing enterocolitis may occur when large doses of vitamin E are administered.

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Vitamin E has been shown to help in decreasing iron-mediated toxic effects on cells by preventing or decreasing membrane-lipid peroxidation.

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By blocking tetrahydrofolic acid, selectively inhibits synthesis of nucleic acids and proteins by bacteria.

Dosage:

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DOC for prophylaxis in patients with thalassemia who have undergone a splenectomy (erythromycin used in patients allergic to penicillin); active against most microorganisms considered to be major pathogens in splenectomized patients (ie, streptococcal, pneumococcal, and some staphylococcal microorganisms) but not penicillinase-producing species. Prophylaxis provided for >3 y after splenectomy.

Dosage:

Adult

250-500 mg PO bid

Pediatric

<5 years: 125 mg/dose PO bid
>5 years: 250 mg/dose PO bid
Streptococcal infections: Administer above doses for >10 d
Prophylaxis: Treat for >3 y after splenectomy

Interactions:

Probenecid may increase effectiveness by decreasing clearance; tetracyclines are bacteriostatic, causing a decrease in the effectiveness of penicillins when administered concurrently.

Contraindications:

Documented hypersensitivity.

Precautions:

Pregnancy

C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus

Precautions

Patients with asthma may have hypersensitivity; PO route usually not adequate for treatment of severe infections; treat for minimum of 10 d for streptococcal infections.

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An aminoglycoside. Effective against gram-negative aerobic microorganisms.

Dosage:

Adult

1-1.5 mg/kg IV q8h with normal renal function

Pediatric

6-7.5 mg/kg/d IV divided q8h

Interactions:

Coadministration with other aminoglycosides, cephalosporins, penicillins, and amphotericin B may increase nephrotoxicity; aminoglycosides enhance effects of neuromuscular blocking agents, thus prolonged respiratory depression may occur; coadministration with loop diuretics may increase auditory toxicity of aminoglycosides; possible irreversible hearing loss of varying degrees may occur (monitor regularly)

Contraindications:

Documented hypersensitivity; non–dialysis-dependent renal insufficiency

Precautions:

Pregnancy

C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus

Precautions

Narrow therapeutic index (not intended for long-term therapy); caution in renal failure (patient not on dialysis), myasthenia gravis, hypocalcemia, and conditions that depress neuromuscular transmission; adjust dose in renal impairment.

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These agents are known to be effective against organisms that may cause infection in patients with iron overload who are also receiving deferoxamine therapy. Y enterocolitica infections are rare in healthy patients because the organism requires siderophores, which are present in patients with thalassemia but not in healthy patients. The appropriate therapy is a combination of trimethoprim-sulfamethoxazole and gentamicin. Patients who require splenectomy must receive prophylactic antibiotics to prevent fulminating sepsis, especially patients younger than 5 years.

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Elicits anticholinergic and sedative effects.

Dosage:

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These agents prevent or ameliorate allergic reactions associated with transfusion of blood products.

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No specific medications are available for the treatment of thalassemia intermedia. Most patients with severe disease are prone to developing megaloblastic anemia due to folate deficiency for several reasons, including poor absorption, low dietary intake, and, most importantly, the extreme demand of the very active bone marrow for folic acid. For this reason, most patients benefit from a low dose of folate.

Many patients with thalassemia intermedia ultimately require regular blood transfusions, usually about every 3-5 weeks. Similar to patients with thalassemia major, patients with thalassemia intermedia who receive regular transfusions are usually premedicated with an antipyretic, such as acetaminophen, and an antihistamine, such as diphenhydramine, 30 minutes before transfusion to prevent both febrile and allergic reactions.

Patients with iron overload should be treated with chelation therapy (orally or parenterally). The drugs of choice at the present time are the oral agent deferasirox and deferoxamine administered subcutaneously by infusion pump 5 times per week. It can be administered while the patient sleeps. Low-dose vitamin C with each infusion of deferoxamine is beneficial in enhancing iron chelation. Combination therapy with more than one agent has proved to be effective in certain situations.

Patients with iron overload who develop fever of unknown origin may have Y enterocolitica infection. Treatment with gentamicin and oral trimethoprim-sulfamethoxazole should be initiated if no other cause for the fever is identified.

Hepatitis C virus (HCV) infection is the most common cause of hepatitis in patients with thalassemia. Because of the high risk of liver failure or even hepatocellular carcinoma in a liver already damaged by iron toxicity and frequent blood transfusions, HCV infection should be aggressively treated in these patients. Interferon alfa therapy has been effective in many children with HCV infection.

Other agents that may be of value in patients with thalassemia intermedia include vitamin E, which may prevent some of the toxic effects of the free radicals and other iron-related toxicity. Penicillin or one of its derivatives should be prophylactically administered for patients who have undergone a splenectomy. Some have also recommended a daily low dose of aspirin as prophylactic treatment in patients with thalassemia intermedia who underwent a splenectomy to prevent thrombotic events.

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Medical therapy for beta thalassemia primarily involves iron chelation. Deferoxamine is the intravenously administered chelation agent currently approved for use in the United States. Deferasirox (Exjade) is an oral iron chelation drug also approved in the US in 2005.

The antioxidant indicaxanthin, found in beets, in a spectrophotometric study showed that indicaxanthin can reduce perferryl-Hb generated in solution from met-Hb and hydrogen peroxide, more effectively than either Trolox or Vitamin C. Collectively, results demonstrate that indicaxanthin can be incorporated into the redox machinery of β-thalassemic RBC and defend the cell from oxidation, possibly interfering with perferryl-Hb, a reactive intermediate in the hydroperoxide-dependent Hb degradation.

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A physical exam may reveal a swollen (enlarged) spleen.

A blood sample will be taken and sent to a laboratory for examination.
Red blood cells will appear small and abnormally shaped when looked at under a microscope.
A complete blood count (CBC) reveals anemia.
A test called hemoglobin electrophoresis shows abnormal hemoglobin.

A test called mutational analysis can help detect alpha thalassemia that cannot be detected with hemoglobin electrophoresis.
Treatment

Treatment for thalassemia major often involves regular blood transfusions and folate supplements.

If you receive blood transfusions, you should not take iron supplements. Doing so can cause a high amount of iron to build up in the body, which can be harmful.

Persons who receive significant numbers of blood transfusions need a treatment called chelation therapy to remove iron from the body.

Bone marrow transplant may help treat the disease in some patients, especially children.
Outlook (Prognosis)

Severe thalassemia can cause early death due to heart failure a, usually between ages 20 and 30. Frequent blood transfusions with therapy to remove iron from the body helps improve the outcome.

Less severe forms of thalassemia usually do not result in a shorter life span.
Possible Complications

Untreated, thalassemia major leads to heart failure and liver problems, and makes a person more likely to develop infections.

Blood transfusions can help control some symptoms, but may result in too much iron which can damage the heart, liver, and endocrine system.

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By Joseph McPhee

(August 2003)

“Those who cannot remember the past are condemned to repeat it.”
— George Santayana

“In the realm of bioethics, the evils we face are intertwined with the goods we so keenly seek. Distinguishing good and bad thus intermixed is often extremely difficult.”
— Leon R. Kass MD, PhD
Chairman, The President’s Council on Bioethics

Since the announcement that the entire human DNA genome had been sequenced in June 2000, newspapers around the world have been rife with proclamations describing how this information is being used for the prevention and treatment of genetic disorders. Among the most promising and controversial claims is the ability of genetic technology to screen in vitro conceived embryos for the presence or absence of certain genes before implantation into the mother. However, accompanying these new technologies are a number of very old questions.

Lessons from the Past

Eugenics is not a new phenomenon. It is the term used to indicate the genetic improvment of the human race by controlled selective breeding [1]. Believers in eugenics seek to apply the techniques commonly used in animal husbandry and plant development to human beings. The eugenic movement was very popular throughout North America during the late nineteenth and early twentieth centuries [2]. The popularity of the eugenic movement can be attributed to a number of social and technological developments that coincided with the spread of the industrial revolution throughout the United States from approximately 1865 to 1890.

Science and technology made breathtaking strides in the latter half of the nineteenth century. So confident were people in the abilities of science to solve the problems of the world that in 1899 Charles Duell, head of the US patent office, suggested that his office be abolished, saying, “everything that can be discovered, has been discovered.” Clearly, Duell’s recommendation was arrogant and premature, but his statement reflects an attitude shared by many of his time. Life expectancies were rising thanks to the development of better public health practices. Incomes throughout the United States were rising due to the increased production afforded by industries at the time. Electricity was being made available throughout the country, increasing the overall quality of life for the newly affluent country.

However, in stride with these advances a number of disturbing developments were growing. Social upheavals throughout Europe led to increased unemployment among the working classes. Immigrants from Europe, particularly Eastern Europe, came to the U.S. seeking a better life. Although the U.S. needed immigrants and the cheap supply of unskilled labour they provided, the country was not prepared for the approximate one million people per year who were entering. Moreover, the jobs held by the immigrants were often the most dangerous, with high risk of illness or death. The rapid growth rate also led to many problems that persist during times of upheaval, such as alcoholism, prostitution, and an elevated crime rate. Darwin never really embraced eugenics as a way of dealing with societal problems, but others, observing problems associated with the rapid influx of immigrants, began to manipulate Darwin’s evolutionary theories as a way of rationalizing a controversial eugenic management method.

With the increased crime and poverty levels existing primarily amongst the recently arrived immigrants it was thought by many at the time that these problems existed because of a defect in these people [1]. According to them, it was society that ultimately paid the price for those who came to be known as “defectives” or “degenerates,” society deserved a solution. The irony was clearly lost on those at the time who looked to improve society but chose not to examine society itself. Thus, policies were developed that sought to limit the effect of inferior genes on American (read “white”) society [1]. These included immigration restrictions from certain countries, forced sterilization of inmates, marriage prohibitions, and racial segregation, the effects of which are still currently being felt.

Are Genetic Advances Leading Us Down the Same Road Again?

Although the science of eugenics was questionable in its interpretation of social reform and the mechanisms of heredity, it is important to note that at the time eugenic policies were developed, nothing was known about the nature of how traits were transferred from parent to offspring. Thus, one must consider the ignorance of the investigator who originally drew conclusions about controlling heritable traits in society.

Recent developments in reproductive genetic technology have raised concerns among some circles that the eugenic movement may be entering a renaissance [1]. However, this time around, rather than poorly defined diseases like “feeblemindedness,” we have clearly defined diseases with a known genetic component that can be identified, and in some cases treated. Orators of the new eugenics suggest another possibility, apart from identification and treatment, whereby diseases with a strong inherited genetic component can be eliminated entirely by preventing that gene from ever being passed on again.

Pre-implantation genetic diagnosis (PGD) is an extension of previously existing prenatal screening technologies. Prenatal screening in an uncomplicated pregnancy usually involves ultrasound to examine fetal development and assess whether there is any abnormal development. In cases where these is a likelihood of abnormal development, as in women over the age of 35 or those with Down’s syndrome or spina bifida, chorionic villus sampling or amniocentesis may be performed. These techniques involve the removal of a sample of chorionic villus or amniotic fluid from a pregnant woman. A sample of which contain cells that have come from the developing embryo, which can be analyzed for the presence of abnormalities [5].

During the 1950’s and 1960’s, these techniques could only be used to determine the sex of the fetus or whether the cells contained sizeable chromosomal defects [5]. Thus, individuals at risk of transmitting X-linked diseases like Hemophilia could determine whether or not they carried a male child, or those at risk of pregnancies with a gross chromosomal defect like Down’s syndrome could examine the fetus for these types of genetic abnormalities. The difficulty of obtaining abortions at this time made the ability to look for these types of problems primarily a tool for preparing expecting parents for the likelihood of having a child with a chronic congenital disability.

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What Happens in Thalassemia Major?


Other Names for thalassemia major are:
Cooley's anemia
b-thalassemia major
Homozygous b-thalassemia
Homozygous thalassemia
Mediterranean anemia

How does thalassemia major first show itself?
During pregnancy the inherited thalassemia major does not affect the fetus. This is because the fetus has a special sort of hemoglobin, called "fetal hemoglobin" (HbF for short). Children and adults have a different hemoglobin called "adult hemoglobin" (HbA for shot). When a baby is born, most of its hemoglobin is still the fetal kind, but during the first 6 months of life it is gradually replaced with adult hemoglobin. The problem with thalassemia, is that the child cannot make adult hemoglobin. Therefore children with thalassemia major are well at birth, but usually become ill before they are 18 months old. They usually become quite anemic (their Hb level is usually less than 8 g/dl). So they become pale, do not grow as well as they should, and often have a big spleen.

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Splenectomy (Removing the Spleen):
When the spleen becomes too active and starts to destroy the red blood cell, transfusions become lesser and less effective. Then it may become necessary to take the spleen out through surgery. This operation is called "Splenectomy".

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Blood transfusions bring extra iron into the body and if transfusions are regular, iron gradually accumulates in the body. It is stored in certain organs, especially the liver, the heart, and the endocrine glands. The iron behaves like a foreign body, and in the end would damage the organs where it is deposited. Fortunately, there are drugs that help the drainage of iron out of the body. The medication used very regularly is Desferrioxamine, more commonly called ‘Desferal’. Desferal keeps the amount of iron under a safe level in a Thalassemic’s body.

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A Thalassemic's bone marrow is not able to make a normal amount of red blood cells. If the malfunctioning bone marrow can be replaced with a normal bone marrow, this problem is solved.

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Blood Transfusion:
Blood Transfusion is one of the most regularly practiced treatments for Thalassemia. To be precise, the treatment is not blood transfusion, but transfusion of red blood cells. These transfusions are necessary to provide the patient with a temporary supply of healthy red blood cells with normal hemoglobin capable of carrying the oxygen that the patient's body needs.

Today, most patients with a major form of Thalassemia receive red blood cell transfusions every two to three weeks. There are three reasons for blood transfusions.

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Patients with thalassemia minor usually do not require any specific treatment. Treatment for patients with thalassemia major includes chronic blood transfusion therapy, iron chelation, splenectomy, and allogeneic hematopoietic transplantation.

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α and β thalassemia are often inherited in an autosomal recessive fashion although this is not always the case. Cases of dominantly inherited α and β thalassemias have been reported, the first of which was in an Irish family who had a two deletions of 4 and 11 bp in exon 3 interrupted by an insertion of 5 bp in the β-globin gene. For the autosomal recessive forms of the disease both parents must be carriers in order for a child to be affected. If both parents carry a hemoglobinopathy trait, there is a 25% chance with each pregnancy for an affected child. Genetic counseling and genetic testing is recommended for families that carry a thalassemia trait.

There are an estimated 60-80 million people in the world who carry the beta thalassemia trait alone. This is a very rough estimate and the actual number of thalassemia Major patients is unknown due to the prevalence of thalassemia in less developed countries in the Middle East and Asia where genetic screening resources are limited. Countries such as India, Pakistan and Iran are seeing a large increase of thalassemia patients due to lack of genetic counseling and screening. There is growing concern that thalassemia may become a very serious problem in the next 50 years, one that will burden the world's blood bank supplies and the health system in general. There are an estimated 1,000 people living with Thalassemia Major in the United States and an unknown number of carriers. Because of the prevalence of the disease in countries with little knowledge of thalassemia, access to proper treatment and diagnosis can be difficult.

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Generally, thalassemias are prevalent in populations that evolved in humid climates where malaria was endemic. It affects all races, as thalassemias protected these people from malaria due to the blood cells' easy degradation. Thalassemias are particularly associated with people of Mediterranean origin, Arabs, and Asians.[2] The Maldives has the highest incidence of Thalassemia in the world with a carrier rate of 18% of the population. The estimated prevalence is 16% in people from Cyprus, 1%[3] in Thailand, and 3-8% in populations from Bangladesh, China, India, Malaysia and Pakistan. There are also prevalences in descendants of people from Latin America and Mediterranean countries (e.g. Greece, Italy, Portugal, Spain, and others). A very low prevalence has been reported from people in Northern Europe (0.1%) and Africa (0.9%), with those in North Africa having the highest prevalence. Ancient Egyptians suffered from Thalassemia with as many as 40%[citation needed] of studied predynastic and dynastic mummies with the genetic defect. Today, it is particularly common in populations of indigenous ethnic minorities of Upper Egypt such as the Beja, Hadendoa, Saiddi and also peoples of the Delta, Red Sea Hill Region and especially amongst the Siwans.

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The thalassemias are classified according to which chain of the hemoglobin molecule is affected. In α thalassemias, production of the α globin chain is affected, while in β thalassemia production of the β globin chain is affected.

Thalassemia produces a deficiency of α or β globin, unlike sickle-cell disease which produces a specific mutant form of β globin.

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A screening policy exists in Cyprus to reduce the incidence of thalassemia, which since the program's implementation in the 1970s (which also includes pre-natal screening and abortion) has reduced the number of children born with the hereditary blood disease from 1 out of every 158 births to almost zero.
In Iran as a premarital screening, the man's red cell indices are checked first, if he has microcytosis (mean cell haemoglobin < 27 pg or mean red cell volume < 80 fl), the woman is tested. When both are microcytic their haemoglobin A2 concentrations are measured. If both have a concentration above 3.5% (diagnostic of thalassaemia trait) they are referred to the local designated health post for genetic counseling.

In 2008, in Spain, a baby was selectively implanted in order to be a cure for his brother's thalassemia. The child was born from an embryo screened to be free of the disease before implantation with In vitro fertilization. The baby's supply of immunocompatible cord blood was saved for transplantation to his brother. The transplantation was considered successful.

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Thalassemia (from θάλασσα, thalassa, sea + αἷμα, haima, blood; British spelling, "thalassaemia") is an inherited autosomal co-dominant blood disease. In thalassemia, the genetic defect results in reduced rate of synthesis of one of the globin chains that make up hemoglobin. Reduced synthesis of one of the globin chains can cause the formation of abnormal hemoglobin molecules, thus causing anemia, the characteristic presenting symptom of the thalassemias.

Thalassemia is a quantitative problem of too few globins synthesized, whereas sickle-cell anemia (a hemoglobinopathy) is a qualitative problem of synthesis of an incorrectly functioning globin. Thalassemias usually result in underproduction of normal globin proteins, often through mutations in regulatory genes. Hemoglobinopathies imply structural abnormalities in the globin proteins themselves.[1] The two conditions may overlap, however, since some conditions which cause abnormalities in globin proteins (hemoglobinopathy) also affect their production (thalassemia). Thus, some thalassemias are hemoglobinopathies, but most are not. Either or both of these conditions may cause anemia.

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