[Abnormalities of the erythrocyte membrane ultrastructure and the membrane proteins in a patient with HEMPAS, alpha thalassemia and complicated diabetes].

Abstract

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.

• Authors: Jin-ying Li, Yan-qun Xu, Zheng-xia Huang, Hong Zhou, Shu-dong Wan
• Journal: Zhonghua nei ke za zhi (Zhonghua Nei Ke Za Zhi) Vol. 43 Issue 6 Pg. 426-8 (Jun 2004) ISSN: 0578-1426 [Print] China
• PMID: 15312436 (Publication Type: English Abstract, Journal Article)

Chemical References

• Membrane Proteins

Topics

• Adult
• Anemia, Dyserythropoietic, Congenital (blood, complications, pathology)
• Bone Marrow (pathology)
• Diabetes Mellitus (etiology)
• Electrophoresis, Polyacrylamide Gel
• Erythrocyte Membrane (metabolism, ultrastructure)
• Humans
• Male
• Membrane Proteins (blood)
• Siderosis (etiology)
• alpha-Thalassemia (complications)