Anaemia is a major public health issue in India today. The figures for anaemia among women and children of India are truly staggering. It is estimated that more than half of all Indian women and ¾th of Indian children suffer from anaemia. The major causes for anaemia include nutritional deficiencies (iron, vitamin B12 and folic acid). Rare disorders of iron metabolism include haemochromatosis and iron refractory iron deficiency anaemia. Even though nutritional anaemias are managed at the primary and secondary care level mostly, some patients who are refractory to treatment are referred to us. Some of these patients have rare causes of iron deficiency.
Thalassaemias (alpha and beta thalassaemias) and haemoglobinopathies (Sickle cell disease, HbE, HbD etc) are haemolytic anaemias caused generally by mutations in beta or alpha globin genes. The clinical picture can vary from an asymptomatic carrier to a severe transfusion dependent anaemia. The only known curative treatment for Thalassaemia major is a bone marrow or peripheral blood stem cell transplant. The department, a pioneer in the field of diagnosis and management of thalassaemias, is the first to perform bone marrow transplants for thalassaemic patients. Transplant requires an HLA identical donor, usually from the family itself. If an HLA identical donor is not available in the family, matched unrelated donor transplant is an option and is done regularly by us. Some patients with sickle cell anaemia also require stem cell transplant. Pre-natal diagnosis for families with affected thalassaemia/sickle cell disease patients is offered here. Other rare disorders like high affinity haemoglobins, unstable haemoglobins etc. are also diagnosed at our centre.
Benign red cell disorders include inherited membrane disorders like hereditary spherocytosis, enzyme disorders like G6PD deficiency and immune haematolytic anaemias. We diagnose and manage a wide spectrum of these diseases. Other rare hereditary (eg: congenital dyserythropoietic anaemias) and acquired (eg: paroxysmal nocturnal haemoglobinuria) causes of haemolytic anaemias are also diagnosed and managed at our department.