Clinical features of patients with hemolytic anemia due to red blood cells membrane defect

Abstract

Background Hemolytic anemia may result from corpuscular or extracorpuscular abnormalities. One of the types of corpuscular abnormalities is membrane defect. The diagnosis is sometimes difficult and it may need special hematologic investigations. There are no data yet on the clinical features of red blood cell membrane defect in Cipto Mangunkusumo Hospital. Objective To evaluate the clinical features and laboratory find- ings of patients with hemolytic anemia due to red blood cells mem- brane defect in Cipto Mangunkusumo Hospital. Methods This was a descriptive study on patients with red blood cells membrane defect who came to the Thalassemia Center at Cipto Mangunkusumo Hospital during 2002-2004. Results In 2002-2004, there were 241 new cases of hemolytic anemia consisted of 116 patients with beta-thalassemia, 109 with HbE-beta thalassemia, 3 with alpha-thalassemia, and 13 with red blood cells membrane defect. The red cells membrane defect pa- tients consisted of 4 males and 9 females, ranging in age from 1 months to 14 years. All subjects came to the hospital due to pale- ness as a chief compaint. Hepato-splenomegaly was found in 5 of 13 cases. Laboratory findings revealed hemoglobin level 6.4-13.1 g/dl (mean 9.4+2.1 g/dl), MCV 58.4-94.5 fl (mean 81.2+10.2 fl), MCHC 31.7-35.8 g/dl (mean 33.9+1.1g/dl), RDW 15.8-28.4% (mean 20.1+3.6%) and normal hemoglobin electrophoresis. Pe- ripheral blood smear showed anisocytosis, poikilocytosis, spherocytes, ovalocytes, stomatocytes, target cells, and fragmented cells. The most common diagnosis in this group was Southeast Asian Ovalocytosis (5/13). Conclusions In facing hemolytic anemia with normal Hb electro- phoresis or normal RBC enzyme level, the possibility of red cells membrane defect should be taken into consideration as a cause of this disorder. The clinical features and laboratory findings of red blood cells membrane defect patients are highly variable. Occa- sionally, hematologic investigations are necessary

Keywords

• Hemolytic anemia
• red blood cells membrane defect
• thalassemia
• DNA analysis