PT  - JOURNAL ARTICLE
AU  - S R McCann
AU  - R Firth
AU  - N Murray
AU  - I J Temperley
TI  - Congenital dyserythropoietic anaemia type II (HEMPAS): a family study.
AID  - 10.1136/jcp.33.12.1197
DP  - 1980 Dec 01
TA  - Journal of Clinical Pathology
PG  - 1197--1201
VI  - 33
IP  - 12
4099  - http://jcp.bmj.com/content/33/12/1197.short
4100  - http://jcp.bmj.com/content/33/12/1197.full
SO  - J Clin Pathol1980 Dec 01; 33
AB  - A family having two affected siblings with congenital dyserythropoietic anaemia type II (HEMPAS) is described. The proband was diagnosed after referral for investigation of haemolytic anaemia. Clinical evaluation and in vivo red cell (RBC) survival and the sequestration studies in the proband indicated that the anaemia was due to a combination of ineffective erythropoiesis and premature destruction of RBCs in the spleen. Scanning electron microscopic examination of peripheral RBCs was undertaken and is reported. The polypeptide composition of RBC membranes was also examined using polyacrylamide gel electrophoresis after solubilisation in sodium dodecyl sulphate. These results are also reported.