Type: Hematologic
Beta-thalassemia major
Severe reduction in beta-globin causing transfusion-dependent anemia and iron overload.
Aplastic anemia
Bone marrow failure with pancytopenia and hypocellular marrow.
Fanconi anemia
Inherited bone marrow failure with congenital anomalies and high cancer risk.
Diamond-Blackfan anemia
Inherited pure red cell aplasia with congenital anomalies.
Glucose-6-phosphate dehydrogenase deficiency
Enzyme deficiency causing oxidative hemolysis triggered by drugs, infection or fava beans.
Hereditary hemorrhagic telangiectasia
Vascular dysplasia with mucocutaneous telangiectases and arteriovenous malformations.
Immune thrombocytopenia
Autoimmune platelet destruction causing isolated thrombocytopenia and bleeding.
Myelodysplastic syndromes
Clonal marrow disorders with ineffective hematopoiesis, cytopenias and leukemia risk.
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