Congenital Methemoglobinemia due to Diaphorase Deficiency

Özsoylu, Şînasi

doi:10.1159/000208513

Cited by 3 publications

(1 citation statement)

References 10 publications

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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: 46%

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: 46%

Haemoglobin H Disease in a Turkish Family

Özsoylu

Işık

1973

Scandinavian Journal of Haematology

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Cytochrome B5 reductase deficiency and mental retardation

Özsoylu

1993

American J Hematol

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To rlie Editor-: In a recent issue of the Journal [ I ] , Van Besien and colleagues reported an unusual case of association between relapsing polychondritis (RP) and myelodysplastic syndrome (MDS). This paper inspired us with some comments.As discussed in this paper. such an association between RP and MDS does not seem to be fortuitous. The authors quoted the paper of Michet and colleagues (21, which included six cases of myeloproliferative or myelodysplastic syndrome associated with RP, and the paper of Arlet and colleagues 131. which described two additional cases (one sideroblastic anemia and one refractory anemia with excess of blasts). One can add a recently published paper from Riche and colleagues [li. which included a previous report from Mongin and colleagues (51. This paper described 12 cases (Refractory anemia with excess of blast: two; sideroblastic anemia: one; chronic myeloinonocytic leukemia: one; refractory anemia with cytopenia: eight). We published recently [6J a new case, characterized by the succession of two different heniopathirs (aplaatic anemia then 8 years later chronic inyeloinonocytic leukemia). the latter being associated with the onset of RP displaying typical joint and then cartilage manifestations. During the evolution of RP a transient orchitis was noted. Our patient died from septic shock with massive bleeding of the cavum. related to a blastic tumor, whereas the chronic myelomonocytic leukemia was transformed into myeloinonocytic acute leukemia. In this literature. MDS can precede RP, can occur simultaneously, or can develop during the evolution of RP. No direct relation has to date been established between the two diseases. The paper of Van Besien and colleagues is in this respect very interesting by describing a partial response of RP following chemotherapy given for the underlying hematological diaorder.Dr. Van Besien underlined the occurrence of orchitis in the case he described. Our own case is another example of this complication during RP. One can remark that both were noted within an hematological context. 0 1993 Wiley-Liss, Inc.All this literature strengthens the idea that the association between RP and MDS is not fortuitous. even if it does not always present as a typical paraneoplastic syndrome, since MDS can be diagnosed at different phases of the evolution of RP. The mechanism of this association remains totally unclear. REFERENCES I . 2. . 4. S. 6.Van Besien K . Tricot G . Hoffman R: Relapsing polychonditis. A paraneoplastic 5yndrome associated with myelodysplastic syndromes. Am J Heniatol 4O:JFSO. 19Y2. Michet CJ, McKenna CH. Luthra HS. O'Fallon WM: Relapsing polychondntis: Survival and predictive role of early disease manifestations. Ann Intern Med 104:74-78. 19x6. Arlet P, Pris J. Sallerin F. Vilain C . Laroche M. Le Tallec Y: Polychnndrite atrophiante: Panicularite\ cliniques. Presse Med I X : 157-160. 1989. Riche 0, Jausaaud R, Rouger C. Strady, Remy G, Salagnas V. Kalis B. Deville J: Polychondritc chronique atrophiante: Manifestations visccralcs et pathologies...

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Acquired methaemoglobinaemia Sir

Özsoylu

2004

Acta Paediatrica

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Congenital Methemoglobinemia due to Diaphorase Deficiency

Cited by 3 publications

References 10 publications

Haemoglobin H Disease in a Turkish Family

Haemoglobin H Disease in a Turkish Family

Cytochrome B5 reductase deficiency and mental retardation

Acquired methaemoglobinaemia Sir

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