HbH disease associated with the (--MED) deletion in a Brazilian black woman.
Clinical, laboratory features and restriction enzyme DNA analysis are reported for a black Brazilian woman with HbH disease. The patient presented a thalassemic blood picture with HbH and Hb Bart's. Gene mapping demonstrated the compound heterozygous state for the --MED and -alpha 3.7 deletions.
Sonati
M F
MF
Department of Clinical Pathology, School of Medicine, State University of Campinas, Brazil.
Kimura
E M
EM
Grotto
H Z
HZ
Tavella
M H
MH
Costa
F F
FF
D000328:Adult; D044383:Black People / Q000235:genetics*; D001938:Brazil; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D004247:DNA / Q000032:analysis; D005260:Female; D005914:Globins / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D015183:Restriction Mapping; D013789:Thalassemia / Q000235:genetics*
D005914:Globins; D004247:DNA