A molecular marker associated with mild hemoglobin H disease.
The clinical spectrum of HbH disease varies from a benign disorder to a severe anemia which is blood-transfusion dependent. Heterogeneity at the clinical level is now being understood in terms of the underlying molecular defects. In this study a mild phenotype found in a group of patients with HbH disease is associated with two types of alpha-thalassemia. These are: alpha+-thalassemia (-alpha 3.7/) and alpha 0-thalassemia (--SEA/). In contrast, a second group with more severe HbH disease has a non-deletional alpha-thalassemia defect instead of alpha+-thalassemia (genotype alpha alpha T/--SEA). In the majority of cases, the basis for non-deletional alpha-thalassemia is Hb Constant Spring.
George
E
E
Department of Pathology, Faculty of Medicine, National University of Malaysia, Kuala Lumpar.
Ferguson
V
V
Yakas
J
J
Kronenberg
H
H
Trent
R J
RJ
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D005260:Female; D005819:Genetic Markers / Q000097:blood*; D006447:Hemoglobin H / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D013789:Thalassemia / Q000145:classification / Q000208:ethnology / Q000235:genetics*
D005819:Genetic Markers; D006455:Hemoglobins, Abnormal; D006447:Hemoglobin H; C035541:Hemoglobin Constant Spring