Hemoglobin H disease caused by two gene deletions.
1. A white Brazilian woman not of Asian origin was found to have Hb H disease of moderate severity. 2. Gene mapping demonstrated that the disease was caused by the association of two abnormal alpha-globin gene clusters on chromosome 16: one with a deletion which removed the two functional alpha genes and the other carrying the 3.7-kb rightward deletion, which leaves a single functional alpha gene. 3. These data illustrate the necessity for systematic molecular approaches to the diagnosis of this heterogeneous group of diseases.
Zago
M A
MA
Departamento de Clínica Médica, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Brasil.
Paçó-Larson
M L
ML
D015139:Blotting, Southern; D002872:Chromosome Deletion; D002885:Chromosomes, Human, Pair 16; D015342:DNA Probes / Q000032:analysis; D004587:Electrophoresis, Agar Gel; D005260:Female; D006801:Humans; D008875:Middle Aged; D005810:Multigene Family; D013789:Thalassemia / Q000235:genetics*
D015342:DNA Probes