Hematology: Benign Blood diseases

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They are caused by alterations in the production or function of components of the blood, such as red blood cells, white blood cells, or platelets. There are more than 20 million patients living with hereditary blood disorders worldwide, including both benign blood disorders and more serious conditions. Blood disorders can cause various symptoms, such as swelling and redness of extremities due to poor blood clotting, increased bleeding without significant injury (as seen in hemophilia), or pale skin and fatigue associated with anemia. Interestingly, blood disorders can exhibit overlapping symptoms with other disorders; for example, weakness and shortness of breath in anemia can also occur in heart and lung conditions. Common blood disorders include hemophilia, characterized by defective blood clotting that results in prolonged bleeding after an injury; beta thalassemia, which involves a reduction in hemoglobin production leading to anemia; and sickle cell disease, where an abnormality in hemoglobin causes blood cells to become rigid and sickle-shaped instead of the typical round shape. Early identification of individuals at risk, potentially through pre-natal genetic testing, can help establish the right clinical management plan.

For conditions like thalassemia and sickle cell anemia, which are classified as hereditary blood disorders, early identification is crucial, as these conditions are inherited and can be passed from one generation to the next. By identifying carriers of benign blood disorders early in pregnancy, healthcare providers can offer appropriate pre-natal genetic testing and support to reduce the risk of passing on these disorders to the baby. The screening process involves a blood test, which is best conducted before 10 weeks of pregnancy to allow for further testing if the initial result indicates a carrier status. This early identification is important for making informed decisions about pregnancy and for providing the necessary support to the parents and the unborn child.

Early identification of individuals at risk for hereditary blood disorders can help establish the right clinical management plan. Additionally, early screening of an unborn child during pregnancy, including pre-natal genetic testing, is important for parents to make informed decisions about the pregnancy and the health of the unborn child, especially concerning benign blood disorders.