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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