Hemoglobin H disease resulting from the association of the - alpha 3.7 rightward deletion and the (alpha alpha)MM deletion in a Brazilian patient.
A patient with Hb H disease resulting from the association of the - alpha 3.7 rightward deletion with the rare (alpha alpha)MM deletion, which removes the entire alpha-major regulatory element (MRE), is reported. This is the first description of an alpha-thalassemic mutation resulting from deletion of the locus-controlling sequences in the South-American population.
Wenning
M R S C
MR
Department of Clinical Pathology and Department of Clinical Medicine, School of Medical Sciences, State University of Campinas-UNICAMP, Campinas, São Paulo, Brazil.
Harteveld
C L
CL
Giordano
P C
PC
Kimura
E M
EM
Saad
S T O
ST
Costa
F F
FF
Sonati
M F
MF
D000328:Adult; D000483:Alleles; D001938:Brazil; D017353:Gene Deletion; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D017085:alpha-Thalassemia / Q000209:etiology / Q000235:genetics*
D005914:Globins