Haematological Disease-II

Abstract

Hematological diseases include various inherited disorders that affect the production and function of blood cells. Sickle cell anemia and thalassemia are two significant genetic blood disorders. Sickle cell anemia is characterized by the production of abnormal hemoglobin S, which causes red blood cells to become rigid and crescent-shaped. The pathophysiology involves the polymerization of hemoglobin S under low oxygen conditions, leading to vaso occlusive crises and hemolysis. Epidemiologically, sickle cell anemia predominantly affects individuals of African, Mediterranean, Middle Eastern, and Indian ancestry. Symptoms include severe pain episodes, anemia, swelling in the hands and feet, frequent infections, and delayed growth. Diagnosis is confirmed through hemoglobin electrophoresis. Treatment focuses on managing symptoms and preventing complications through pain management, hydroxyurea, blood transfusions, and bone marrow transplants. Complications can include stroke, acute chest syndrome, organ damage, and increased risk of infections. Prevention strategies involve genetic counseling and prenatal screening. Thalassemia is another inherited blood disorder characterized by reduced or absent production of one or more globin chains, leading to ineffective erythropoiesis and hemolysis. There are two main types: alpha and beta thalassemia, depending on which globin chain is affected. Epidemiologically, thalassemia is most common in individuals of Mediterranean, Middle Eastern, South Asian, and African descent. Symptoms vary depending on the severity and include anemia, fatigue, bone deformities, and growth delays. Severe forms, such as beta-thalassemia major, present early in life and require regular blood transfusions. Diagnosis involves blood tests showing microcytic hypochromic anemia and genetic testing. Treatment for severe thalassemia includes regular blood transfusions, iron chelation therapy to prevent iron overload, and bone marrow transplants. Complications can include heart and liver disease due to iron overload, growth retardation, and increased risk of infections. Prevention strategies include genetic counseling, carrier screening, and prenatal diagnosis to manage and reduce the incidence of these disorders