Hemophilia and Haemoglobinopathies are a group of medical conditions which alters the quality of life of people especially children. As these are genetic disorders, they do not have a curative treatment in general, but only can modify the symptoms to improve the quality of life and with adequate knowledge about transmission, is preventable. Kerala state, which has committed to bring down Infant and Child Mortality Rates by 2030, seeks to address all preventable causes of death among children and to this effect; Hemophilia and Haemoglobinopathies are a matter that needs to be addressed as a priority.
Bleeding disorders results from deficient production of clotting factors in circulation, most common group among them being Hemophilia, which are inherited as a classic X-linked recessive disease, which is transmitted from generation to generation, and hence seen in specific families, males showing active bleeding symptoms, but women being silent carriers. Acquired bleeding defects are separate clinical entities, due to non- inherited causes.
Hemoglobinopathies are inherited disorders of red blood cells in humans due to single gene aberrations affecting production of the vital oxygen carrying component of red blood cells. These aberrant genes cause production of abnormal hemoglobin in the blood with resultant altered oxygen transport mechanisms which in turn will result in varying manifestations ranging from foetal loss to growth retardations and a range of lifelong illnesses and life limitation.
Sickle Cell Disease and Thalassemia are the two types of Hemoglobinopathies currently prevalent in many parts of the World. India has the largest number of Thalassemia major patients in the world : 1-1.5 lakhs and about 42 million carriers of r3Thalassemia trait. Government of India has brought out a national policy for Hemoglobinopathies outlining steps for prevention, diagnosis, management and rehabilitation of patients affected with the genetically transmitted disorders. In Kerala there are around 6000 patients who are suffering from these health conditions.
