Type II Congenital Dyserythropoietic Anemia

Enquist, Robert W.

doi:10.7326/0003-4819-77-3-371

Cited by 21 publications

(5 citation statements)

References 11 publications

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“…Existen tres tipos: el tipo I y II se transmiten con herencia autosómica recesiva y son debidos a alteraciones en los cromosomas 15 y 2, respectivamente (8). El tipo I cursa con anemia moderada o grave y en el tipo II el grado de anemia puede ser variable (9,10). El tipo III se transmite de forma autosómica dominante, produce un cuadro de anemia leve y se debe a una mutación a nivel del comosoma 15 (11).…”

Section: Discussionunclassified

Hidrops fetal no inmune por anemia diseritropoyética congénita

et al. 2011

Rev. chil. obstet. ginecol.

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Section: Discussionunclassified

Hidrops fetal no inmune por anemia diseritropoyética congénita

et al. 2011

Rev. chil. obstet. ginecol.

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“…This was due to an IgM antibody of unclear specificity. It was further found that anti-i reacted strongly with clinically affected CDA-II erythrocytes and possibly with clinically unaffected family members, suggesting an autosoinal recessive mode of inheritance (Crookston et al, 1969;Enquist et al, 1972).…”

Section: Discussionmentioning

confidence: 99%

“…It has been shown by several groups that the CDA-I1 red blood cell will bind more anti-i antibody than will normal erythrocytes (Crookston et al, 1969;Enquist et al, 1972;Lewis et al, 1970). Further, it binds a natural occurring IgM antibody which causes lysis of the CDA-I1 erythrocyte in the presence of complement (Crookston ct a / , 1969;Enquist et a / , 1972). Rochant et a2 (1973) have recently shown that a number of animal sera, including the rabbit, agglutinate CDA-I1 cells at a higher titre than normal cells.…”

Section: Discussionmentioning

confidence: 99%

The Abnormal Surface Characteristics of the Red Blood Cell Membrane in Congenital Dyserythropoietic Anaemia Type II (HEMPAS)

1975

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The red blood cell membranes of patients with congenital dyserythropoietic anaemia Type II (CDA-II) were found to be abnormal. They had altered antigenic characteristics, decreased electrophoretic mobility, decreased sialic acid content, and abnormal filtration through polycarbonate filters. Proteins extracted from the CDA-II erythrocytes showed a different banding pattern on polyacrylamide gels compared to normal erythrocytes. Erythrocytes from clinically unaffected siblings and parents showed similar but less striking abnormalities of antigenic surface characteristics and banding patterns on polyacrylamide gels with nearly normal surface charge, sialic acid content, and filtration properties. These studies suggest a correlation between the degree of membrane abnormality and the clinical state of the CDA-II family member, demonstrate the erythrocyte in the heterozygote state is not normal, and support the concept of CDA-II as an autosomal recessive disease.

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“…Israels et al (1959), Israels and Zipursky (1962), and Berendsohn et al (1964) also described increased early labelled pigment production in disorders which appear to be forms of CDA, and Enquist et al (1972) demonstrated a six-fold increase in carbon monoxide production in a case of CDA type II, only half of which could be accounted for by peripheral haemolysis. However, no quantitative estimates of ineffective erythropoiesis in this disorder have hitherto been made.…”

Section: Quantitation Of Ineffective Erythropoiesismentioning

confidence: 92%

Congenital dyserythropoietic anaemia: response to splenectomy and quantitation of ineffective erythropoiesis.

Samson¹,

Halliday²,

Chanarin³

1977

J Clin Pathol

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SUMMARY The clinical and haematological features of an unusual case of congenital dyserythropoietic anaemia are described. There was a pronounced haemolytic component to the anaemia, with a mean cell life of five days, and a remarkable response to splenectomy. Measurement of the incorporation of 15N glycine into the haem of circulating red cells and into bilirubin showed that haem turnover due to ineffective erythropoiesis was increased 45 times compared with a control group (11 63 mg/kg/day, NR = 0-26 ± 0 10) and represented 51 % of total erythroid haem turnover.

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Type II Congenital Dyserythropoietic Anemia

Cited by 21 publications

References 11 publications

Hidrops fetal no inmune por anemia diseritropoyética congénita

Hidrops fetal no inmune por anemia diseritropoyética congénita

The Abnormal Surface Characteristics of the Red Blood Cell Membrane in Congenital Dyserythropoietic Anaemia Type II (HEMPAS)

Congenital dyserythropoietic anaemia: response to splenectomy and quantitation of ineffective erythropoiesis.

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