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Prepublished online as a Blood First Edition Paper on July 5, 2002; DOI 10.1182/blood-2002-05-1405.
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Blood, 15 November 2002, Vol. 100, No. 10, pp. 3447-3449
FOCUS ON HEMATOLOGY
Familial idiopathic methemoglobinemia revisited: original cases
reveal 2 novel mutations in NADH-cytochrome b5 reductase
Melanie J. Percy,
Matthew J. S. Gillespie,
Geraldine Savage,
Anne E. Hughes,
Mary Frances McMullin, and
Terry R. J. Lappin
From the Department of Haematology, Belfast City
Hospital; Department of Haematology, Royal Victoria Hospital, Belfast;
and Departments of Medical Genetics and Haematology, Queen's
University, Belfast, Northern Ireland.
In 1943, the first description of familial idiopathic
methemoglobinemia in the United Kingdom was reported in 2 members of one family. Five years later, Quentin Gibson (then of Queen's University, Belfast, Ireland) correctly identified the pathway involved
in the reduction of methemoglobin in the family, thereby describing the
first hereditary trait involving a specific enzyme deficiency.
Recessive congenital methemoglobinemia (RCM) is caused by a deficiency
of reduced nicotinamide adenine dinucleotide (NADH)-cytochrome b5
reductase. One of the original propositi with the type 1 disorder has
now been traced. He was found to be a compound heterozygote harboring 2 previously undescribed mutations in exon 9, a point mutation Gly873Ala
predicting a Gly291Asp substitution, and a 3-bp in-frame
deletion of codon 255 (GAG), predicting loss of glutamic acid. A
brother and a surviving sister are heterozygous; each bears one of the
mutations. Thirty-three different mutations have now been recorded
for RCM. The original authors' optimism that RCM would provide
material for future genetic studies has been amply justified.
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