[Abnormalities of the erythrocyte membrane ultrastructure and the membrane proteins in a patient with HEMPAS, alpha thalassemia and complicated diabetes].
OBJECTIVE
Diagnosis of a case with congenital dyserythropoietic anemia (CDA).


METHODS
Routine tests for hemolysis were carried out. The activities of erythrocyte enzymes were measured according to the methods recommended by international committee for standardization in hematology (ICSH). The quantity and quality of erythrocyte membrane proteins were analyzed with 4% - 15% sodium dodecyl sulfate-polyacrylamide gradient gel electrophoresis (SDS-PAGE). The membrane ultrastructure of erythrocyte from bone marrow was observed under transmission electron microscope (TEM).


RESULTS
The main results were: (1) Bone marrow morphology revealed erythroid hyperplasia and 0.10 symmetrically binucleated late erythroblasts. The erythrocytes in peripheral blood showed anisocytosis and hypochromia. (2) The intracellular iron was 0.98 and the storage iron was strongly positive in bone marrow. The serum ferritin was 1607 micro g/L. The content of blood sugar was 27.5 mmol/L. (3) Ham test was negative in his own acidified serum but positive in the group-compatible sera. (4) A quick mobile H band was seen in hemoglobin electrophoresis. H inclusion test was positive. (5) SDS-PAGE demonstrated that the migration of band 3 protein of erythrocyte membrane in an electric field was faster (110%) than that of normal controls and the relative contents of band 1, band 3, band 4.1 were reduced to various extent. (6) "Double membrane" with gap and shedding was observes under TEM.


CONCLUSIONS
The final diagnosis of the case was CDAII, also called HEMPAS (hereditary erythroblastic multinuclearity with positive acidified serum), accompanied with alpha thalassemia and secondary siderosis and diabetes.
Li
Jin-ying
JY
Department of Hematology, Changhai Hospital, The Second Military Medical University, Shanghai 200433, China. jylahslc@smmu.edu.cn
Xu
Yan-qun
YQ
Huang
Zheng-xia
ZX
Zhou
Hong
H
Wan
Shu-dong
SD
D000328:Adult; D000742:Anemia, Dyserythropoietic, Congenital / Q000097:blood / Q000150:complications / Q000473:pathology*; D001853:Bone Marrow / Q000473:pathology; D003920:Diabetes Mellitus / Q000209:etiology; D004591:Electrophoresis, Polyacrylamide Gel; D004910:Erythrocyte Membrane / Q000378:metabolism / Q000648:ultrastructure*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000097:blood*; D012806:Siderosis / Q000209:etiology; D017085:alpha-Thalassemia / Q000150:complications
D008565:Membrane Proteins