Hb FM-Fort Ripley: confirmation of autosomal dominant inheritance and diagnosis by PCR and direct nucleotide sequencing.
We describe a normal neonate who presented at four days of age with asymptomatic cyanosis. There was no evidence of cardiac or pulmonary abnormality and an extended family history included 13 other affected family members with asymptomatic cyanosis lasting one to three months. Polymerase chain reaction (PCR) amplification and direct nucleotide sequencing of the proband's G gamma chain gene revealed the mutation at codon 92 (CAC-->TAC) previously shown in haemoglobin FM-Fort Ripley (alpha 2 gamma G gamma 92 (F8) His-->Tyr). This is the first family with Hb FM-Fort Ripley reported so far. It demonstrates autosomal dominant inheritance of this condition and incomplete penetrance.
Hain
R D
RD
Department of Haematology, Hospital for Sick Children, Toronto, Canada.
Chitayat
D
D
Cooper
R
R
Bandler
E
E
Eng
B
B
Chui
D H
DH
Waye
J S
JS
Freedman
M H
MH
D000595:Amino Acid Sequence; D001483:Base Sequence; D017931:DNA Primers; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics*; D005799:Genes, Dominant; D006449:Hemoglobin M / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D015183:Restriction Mapping
D017931:DNA Primers; D006455:Hemoglobins, Abnormal; D005319:Fetal Hemoglobin; D006449:Hemoglobin M; C059479:hemoglobin FM Fort Ripley