Hb Gun Hill: a further de novo observation.
Here we report the third observation (the second de novo) of unstable Hb Gun Hill or [b91(F7)-95(FG2)Leu-His-Cys-Asp-Lys-->0]. The two-year old male carrier showed low mean corpuscular hemoglobin (MCH) and mean hemoglobim concentration (MCHC), 8.5% fetal hemoglobin and trade mark 30% variant hemoglobin. Mild hemolytic symptoms were detected seven years later. DNA sequencing and functional studies of mRNA and globin chains were performed.
De Angioletti
Maria
M
Lacerra
Giuseppina
G
Testa
Rosario
R
Flagiello
Angela
A
Schilirò
Gino
G
Carestia
Clementina
C
D002675:Child, Preschool; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree
D006455:Hemoglobins, Abnormal; C048651:hemoglobin Gun Hill