Hb Madrid [beta115(G17)Ala-->Pro] in a Korean family with chronic hemolytic anemia.
Hb Madrid, in which the alanine residue at beta115 (G17) is replaced by proline, results in a moderately severe hemolytic anemia due to the disruption of an alpha helical region and the weakening of an alpha1 beta1 contact (1,2). It was first discovered in a single Spanish patient, by protein structural analysis, whose parents did not carry the abnormality (1). The second observation of Hb Madrid was in an American Black teenager by DNA analysis, who had the family history of chronic hemolytic anemia, but none of family members were available for evaluation (3).
Kim
J Y
JY
Department of Clinical Pathology, Seoul National University College of Medicine Seoul National University Hospital, Korea.
Park
S S
SS
Jung
H L
HL
Keum
D H
DH
Park
H
H
Chang
Y H
YH
Lee
Y J
YJ
Cho
H I
HI
D000293:Adolescent; D000328:Adult; D000743:Anemia, Hemolytic / Q000097:blood / Q000235:genetics* / Q000628:therapy; D001803:Blood Transfusion; D002908:Chronic Disease; D004252:DNA Mutational Analysis; D005192:Family Health; D005220:Fathers; D006403:Hematologic Tests; D006454:Hemoglobins / Q000032:analysis / Q000378:metabolism; D006455:Hemoglobins, Abnormal / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D007723:Korea; D008297:Male; D009679:Nuclear Family; D010375:Pedigree; D013156:Splenectomy
D006454:Hemoglobins; D006455:Hemoglobins, Abnormal; C082236:hemoglobin Madrid