Rare anemias

Fanconi anemia – Fanconi anemia is a rare genetic disorders that affects the bone marrow, leading to bone marrow failure. It is characterized by a defect in abnormalities in various cells throughout the body.

Symptoms: Bone marrow failure, which can lead to low red blood cell counts(anemia), low platelet counts(thrombocytopenia).

Diagnosis: CBC, Reticulocyte, bone marrow biopsy, MRI

Treatment: Focuses on managing symptoms and complications. This include blood transfusions, growth factors to stimulate blood cell production and medications to prevent infections and manage other complications. In some cases, bone marrow transplantation is considered

Diamond-Black fan anemia (DBA) – Diamond-Black fan anemia is a rare genetic disorder characterized by a failure of the bone marrow to produce enough red blood cells, which leads to anemia. it is usually diagnosed in infancy or early childhood. The exact cause of DBA is often unknown, but it is believed to involve abnormalities in the maturation of red blood cells.

Symptoms: symptoms are usually present within the first year of life and include pale skin, fatigue, weakness, rapid heartbeat, shortness of breath and a increased risk of infections. Some individuals with DBA may also have physical abnormalities such as thumb or hand deformities, craniofacial abnormalities or heart defects.

Diagnosis: CBC, Reticulocyte, bone marrow aspiration and biopsy

Treatment: blood transfusions and corticosteroids or stem cell transplantation.