Hemophilia & Thalassemia


Haemophilia is a group of hereditary genetic disorders that impairs the body's ability to control blood clotting, which is used to stop bleeding when a blood vessel is broken. The blood coagulation mechanism is a process which transforms the blood from a liquid into a solid, and involves several different clotting factors. The mechanism generates fibrin when it is activated, which together with the platelet plug, stops the bleeding.

When coagulation factors are missing or deficient the blood does not clot properly and bleeding continues.

There are two main types of haemophilia - Haemophilia A (due to factor VIII deficiency) and Haemophilia B (due to factor IX deficiency). They are clinically almost identical and are associated with spontaneous bleeding into joints and muscles and internal or external bleeding after injury or surgery. Hemophilia A (clotting factor VIII deficiency) is the most common form of the disorder, present in about 1 in 5,000–10,000 male births.

Though there is no cure for A, it can be controlled with regular infusions of the deficient clotting factor, i.e. factor VIII in hemophilia A or factor IX in haemophilia B. Factor replacement can be either isolated from human blood serum, recombinant, or a combination of the two. Some haemophiliacs develop antibodies (inhibitors) against the replacement factors given to them, so the amount of the factor has to be increased or non-human replacement products must be given, such as porcine factor VIII.

Thalassemia also called Mediterranean anemia, is a form of inherited autosomal recessive blood disorder characterized by abnormal formation of hemoglobin. The abnormal hemoglobin formed results in improper oxygen transport and destruction of red blood cells. Thalassemia can cause complications, including iron overload, bone deformities, splenomegaly and cardiovascular illness.

There are two primary types of Thalassemia disease: Alpha Thalassemia disease and Beta Thalassemia disease. Beta Thalassemia Major (also called Cooley's Anemia) is a serious illness. Symptoms appear in the first two years of life and include paleness of the skin, poor appetite, irritability, and failure to grow. Proper treatment includes routine blood transfusions and other therapies.

Thalassemias affect males and females. The disorders occur most often among people of Italian, Greek, Middle Eastern, Southern Asian, and African descent. Severe forms usually are diagnosed in early childhood and are lifelong conditions. Doctors diagnose thalassemias using blood tests. The disorders are treated with blood transfusions, medicines, and other procedures.

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Thalassemias are inherited blood disorders that can result in the abnormal formation of hemoglobin. Symptoms depend on the type and can vary from none to severe. Often there is mild to severe anemia (low red blood cells). Anemia can result in feeling tired and pale skin. There may also be bone problems, an enlarged spleen, yellowish skin, dark urine, and among children slow growth

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Thalassemias are inherited blood disorders that can result in the abnormal formation of hemoglobin. Symptoms depend on the type and can vary from none to severe. Often there is mild to severe anemia (low red blood cells). Anemia can result in feeling tired and pale skin. There may also be bone problems, an enlarged spleen, yellowish skin, dark urine, and among children slow growth

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