A case report of a male patient with Hb Hammersmith [β42(CD1)Phe→Ser, TTT>TCT].
All Hb Hammersmith [β42(CD1)Phe→Ser, TTT>TCT] patients reported so far have been female, suggesting that this condition may occur as a negative, fatal intrauterine selection against males. In this case report, we describe a male case of Hb Hammersmith. A 6-month-old male patient, born from ovum donation, presented with hemolytic anemia and cyanosis. Hemoglobin (Hb) electrophoresis revealed decreased Hb A (54.0%) and Hb A(2) (0.3%) and markedly increased Hb F (45.7%) levels. Direct sequencing revealed a missense mutation in the HBB gene, c.128T>C (p.Phe42Ser), which is known as Hb Hammersmith. This mutation was not identified in any of this patient's family members. This is the first case of Hb Hammersmith in a male patient, and this study demonstrates that Hb Hammersmith is likely a non fatal condition for males during the intrauterine period.
Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea.
Seungman
S
Park
Hyoung Jin
HJ
Kang
Sung Im
SI
Cho
So Yeon
SY
Kim
Moon-Woo
MW
Seong
Sung Sup
SS
Park
D000743:Anemia, Hemolytic / Q000150:complications / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D003490:Cyanosis / Q000150:complications / Q000235:genetics*; D004252:DNA Mutational Analysis; D005319:Fetal Hemoglobin / Q000378:metabolism; D006443:Hemoglobin A2 / Q000378:metabolism; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D018587:Oocyte Donation; D010375:Pedigree; D056910:Republic of Korea
D006455:Hemoglobins, Abnormal; C011478:hemoglobin Hammersmith; D006443:Hemoglobin A2; D005319:Fetal Hemoglobin