Unstable hemoglobinemia, Hb Buenos Aires, Bryn Mawr, followed up for eighteen years.
A 20-year-old man has been under observation for 18 years because of unstable hemoglobinemia, Hb Buenos Aires, Bryn Mawr (beta-globin, Phe85Ser). At the age of 19 years, he was hospitalized because of fever and hemolytic crisis, and the symptoms resolved after infusion of antibiotics. Nucleotide sequencing of the beta-globin gene confirmed that the patient was heterozygous for the mutation. The patient's erythrocytes showed an increased affinity for oxygen and a prolonged glycerol lysis time. We review a previously reported single family and 5 other cases, and discuss the clinical significance of splenectomy and plasma-derived haptoglobin.
Ando
Chie
C
Department of Medicine, Fukuoka Dental College, Fukuoka, Japan.
Moriyama
Kosei
K
Nakashima
Yoshiyuki
Y
Ohmiya
Akira
A
Yoshikuni
Hirofumi
H
Moriuchi
Hiroyuki
H
Tsuji
Yoshiro
Y
Ohba
Yuzo
Y
Hattori
Yukio
Y
Kamitamari
Akira
A
D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D001483:Base Sequence; D004912:Erythrocytes / Q000378:metabolism; D005500:Follow-Up Studies; D005990:Glycerol; D006242:Haptoglobins; D006453:Hemoglobinopathies / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000737:chemistry / Q000235:genetics*; D006461:Hemolysis; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D010100:Oxygen / Q000097:blood; D013156:Splenectomy
D006242:Haptoglobins; D006455:Hemoglobins, Abnormal; C098266:hemoglobin Buenos Aires; D005990:Glycerol; D010100:Oxygen