Molecular identification of hereditary persistence of fetal hemoglobin type 2 (HPFH type 2) in patients from Brazil.
The HPFH deletion type 2 was first described in a patient from Ghana and is characterized by a large deletion of approximately 105 kb extension. We report here the results obtained in studying a black Brazilian patient who presented an association of beta-thalassemia and HPFH type 2, using a PCR strategy for detection of the breakpoint region. This procedure allows a rapid molecular identification of this condition and is a reliable procedure for screening patients with a hematological picture of HPFH deletion types.
Gonçalves
M S
MS
Department of Hematology, School of Pharmacy and Biochemistry, Federal University of Salvador-BA, Brazil.
Fahel
S
S
Figueiredo
M S
MS
Kimura
E J
EJ
Nechtman
F
F
Stoming
T A
TA
Arruda
V R
VR
Saad
S T
ST
Costa
F F
FF
D000328:Adult; D001938:Brazil / Q000453:epidemiology; D002648:Child; D005319:Fetal Hemoglobin / Q000032:analysis / Q000235:genetics; D017353:Gene Deletion; D005914:Globins / Q000235:genetics; D006453:Hemoglobinopathies / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation; D011401:Promoter Regions, Genetic; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics*
D005914:Globins; D005319:Fetal Hemoglobin