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 as ymptomatic cyanosis. There was no evidence of cardiac or pulmonary abn ormality and an extended family history included 13 other affected fam ily members with asymptomatic cyanosis lasting one to three months. Po lymerase chain reaction (PCR) amplification and direct nucleotide sequ encing of the proband's Gy chain gene revealed the mutation at codon 9 2 (CAC-->TAC) previously shown in haemoglobin FM-Fort Ripley (alpha(2) gamma(2)(GY 92 (F8) His-->Tyr)). This is the first family with Hb FM- Fort Ripley reported so far. It demonstrates autosomal dominant inheri tance of this condition and incomplete penetrance.(C) 1994 Wiley-Liss, Inc.