Hereditary Methemoglobinemic Cyanosis Due to Diaphorase Deficiency in Three Successive Generations

Ozsoylu, S

doi:10.1159/000209079

Cited by 8 publications

(4 citation statements)

References 8 publications

(13 reference statements)

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“…Although Hb H is unstable (Rigas & Koler 1961, Scott et a1 1970, the methaemoglobin concentrations were not increased in any of our patients (Ozsoylu 1967(Ozsoylu , 1972. The slight elevation of plasma haemoglobin concentration (15.5 mg%) (Ozsoylu & Tanyeri 1968) and absence of haptoglobin in the propositus' serum, as demonstrated in patients with beta thalassaemia major (Yamak & Ozsoylu 1969), could be evidence of haemolytic anaemia.…”

Section: Resultsmentioning

confidence: 45%

Haemoglobin H Disease in a Turkish Family

Özsoylu

Işık

1973

Scandinavian Journal of Haematology

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Hb H disease was found in a Turkish woman, her mother and two of her siblings. Although all had mild pallor and two had mild splenomegaly, these persons were asymptomatic. In addition to two anodal bands, interpreted as Hb H and Hb Bart's, a third band was seen on Hb‐starch‐gel electrophoresis at pH 7. The slightly elevated plasma Hb level, the presence of methaemalbumin, and the absence of haptoglobin in the serum of the propositus were attributed to haemolytic anaemia.

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Section: Resultsmentioning

confidence: 45%

Haemoglobin H Disease in a Turkish Family

Özsoylu

Işık

1973

Scandinavian Journal of Haematology

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“…There is one previous report of cytb5r enzyme deficiency in a Turkish family, but the cytb5r mutation was not determined. 16 Type I disease is the most common form of RCM, affecting only erythrocytes. Most of the patients with Type I disease present with mild visible cyanosis and do not become symptomatic until their methaemoglobin levels exceed 25% of the total haemoglobin.…”

Section: Resultsmentioning

confidence: 99%

Congenital methaemoglobinaemia Type I in a Turkish infant due to a novel mutation, Pro144Ser, in NADH-cytochrome b5 reductase

Percy¹,

Ören²,

Savage³

et al. 2004

Hematol J

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A baby centrally cyanosed from birth was investigated for a congenital cardiac defect. Echocardiography and angiography revealed patent foramen ovale without any other cardiac abnormality. Congenital methaemoglobinaemia was considered as the methaemoglobin level was 27%, suggesting either Hb M or a deficiency of the NADH-cytochrome b5 reductase (cytb5r) enzyme. Measurement of the cytb5r enzyme activity of this patient indicated a reduced level of 7.3 IU/g Hb (normal range 11.5-26.9 IU/g Hb). Sequencing the DIA 1 gene that encodes cytb5r revealed a novel C403T base change, predicting a proline to serine change at codon 144. This amino-acid change is not located in the enzyme's active site and does not cause loss of function. Instead it results in reduced stability of the enzyme and development of the less severe or Type I form of recessive congenital methaemoglobinaemia. The infant was started on daily ascorbic acid treatment. She has very mild cyanosis and normal growth and developmental parameters on follow-up at 10 months of age.

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“…There are some other hemoglobinopathies, like HbKansas and HbE, where oxygen affinity is decreased [18], Although no cyanosis has been observed in people with hemoglobin E, it has been reported in those with HbKansas [22], This indicates that among the other possibilities which were mentioned in our previous publication [23], HbKansas should also be looked for in patients with congenital cyanosis.…”

Section: Commentsmentioning

confidence: 91%