Case Discussion: Pancytopenia in Patient with β-Thalassemia and Hb E Disease

Abstract

β-Thalassemia is an insufficient synthesis of either the β chain of hemoglobin. HbE, in interaction with β-thalassemia, results in a thalassemia syndrome of intermediate severity, although the clinical spectrum is very heterogeneous, ranging from a mild phenotype to a severe transfusion-dependent anemia. We reported a case Pancytopenia in Patient with β-Thalassemia and Hb E Disease at 8 YO boy. Came to hospital with chief complaint pale. Pale since 4 days before admission, history take drugs from midwife 5 day before admission, and family history sister died at age 8 YO due to Thalassemia. Vital signs HR: 110 bpm, RR: 32 breaths/minute, T: 39,8⁰C. Physical examination : splenomegaly (schuffner II-III), anthropometric data shows malnutrition condition. Laboratory data: Hb 2 g/dL, WBC 2.83 /mm3, Thrombo 52.000/mm3, Peripheral  blood smear show erythrocyte hipocrom anisopoikilocytosis, target cell (+), cigar cell (+), fragmentosit (+). Hb-Electrophoresis: Mayor Beta thalassemia + Hb E disease.  Diagnosis of the disease is made based on history, clinical examination, laboratory, examination of peripheral blood. Pancytopenia in this patient may caused by splenic sequestration due to Hypersplenism, drugs, SIRS, and malnutrition. Further examination plan/suggestion: BMA.

Key words: β-Thalassemia; Hb E Disease; Pancytopenia