Updated by: Arabinda Naik
Haemophilia: is caused by a mutation in the genes responsible for producing certain blood-clotting proteins. There are two main types of haemophilia: Haemophilia A, caused by a deficiency of clotting factor VIII, and Haemophilia B, caused by a deficiency of clotting factor IX. These deficiencies lead to impaired blood clotting. Haemophilia is typically inherited in an X-linked recessive manner, which means that the gene responsible for the disorder is located on the X chromosome. As a result, it primarily affects males, who have one X and one Y chromosome. Females can be carriers of the haemophilia gene, and in some cases, they can also have the disorder if they inherit two affected X chromosomes (rare). Haemophilia is characterized by a tendency to bleed excessively and for longer durations, even from minor injuries. Spontaneous bleeding into joints and muscles is also common. People with haemophilia may experience joint pain, easy bruising, and prolonged bleeding after surgeries or dental procedures. Haemophilia is typically managed with clotting factor replacement therapy, where the missing or deficient clotting factors (VIII or IX) are administered to help the blood clot properly. Patients may also receive prophylactic treatments to prevent bleeding episodes.
Sickle cell anaemia: on the other hand, is caused by a mutation in the gene that codes for haemoglobin, a protein responsible for carrying oxygen in red blood cells. The mutation results in the formation of abnormal haemoglobin known as haemoglobin S, which causes red blood cells to become misshapen and break down more easily. Sickle cell anaemia is inherited in an autosomal recessive manner, which means that it can affect both males and females equally. To have the disorder, an individual must inherit two copies of the mutated gene, one from each parent. Sickle cell anaemia results in the formation of sickle-shaped red blood cells that can block blood vessels, leading to pain, anaemia, and organ damage. Symptoms of sickle cell anaemia include severe pain crises, fatigue, jaundice, susceptibility to infections, and delayed growth in children. Sickle cell anaemia management involves relieving symptoms and preventing complications. This may include pain management, blood transfusions, medications, and in some cases, bone marrow or stem cell transplants.