Erythrocyte Enzymatic Abnormalities in HEMPAS (Hereditary Erythroblastic Multinuclearity with a Positive Acidified‐Serum Test)

Valentine, William N.; Crookston, J. H.; Paglia, Donald E.; Konrad, Patricia N.

doi:10.1111/j.1365-2141.1972.tb03464.x

Cited by 27 publications

(3 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The clinical picture of the affected CDA-11 patient is one of non-spherocytic haeniolytic anaemia with no apparent erythrocyte enzyme deficiency (Valentine et al, 1972). The studies presented here showcd abnormalities in surface charge and deformability which may be of importance to normal erythrocyte survival.…”

Section: Discussionmentioning

confidence: 61%

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

1975

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionmentioning

confidence: 61%

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

1975

View full text Add to dashboard Cite

show abstract

“…Вперше ІІ тип дизеритропоетичної анемії був описаний в 1962 році [3]. До 1978 року у світовій літературі описано більше 50 випадків спадкової дизеритропоетичної анемії ІІ типу [4]. На території Радянського Союзу вперше клінічний випадок спадкової дизеритропоетичної анемії описаний в 1978 році [5].…”

Section: S Ect Io N хVi I M Edi Ca L Sc I E Nce S and P Ubl Iunclassified

Два Клінічні Випадки Спадкової Дизеритропоетичної Анемії Іі Типу

Vygovska¹,

Даниш²,

Книш³

et al. 2022

GoS

View full text Add to dashboard Cite

Спадкова дизеритропоетична анемія – рідкісна форма спадкової гемолітичної анемії. На території Радянського Союзу перший випадок спадкової дизеритропоетичної анемії вперше описаний в 1978 році. В даній статті описано два випадки спадкової дизеритропоетичної анемії ІІ типу у молодого чоловіка та жінки. Представлено складність діагностики та ефективність спленектомії.

show abstract

“…The clinical and haematological features of 21 of these patients were reviewed at a Symposium on Congenital Dyserythropoietic Anaemias in Munich (Verwilghen et al, 1972). The clinical and haematological features of 21 of these patients were reviewed at a Symposium on Congenital Dyserythropoietic Anaemias in Munich (Verwilghen et al, 1972).…”

mentioning

confidence: 99%

Red‐Cell Abnormalities in HEMPAS (Hereditary Erythroblastic Multinuclearity with a Positive Acidified‐Serum Test)

Crookston

Rosse

1972

Br J Haematol

Self Cite

View full text Add to dashboard Cite

Abnormalities of the membrane of HEMPAS red cells have been demonstrated by certain serological tests and in freeze-etch electron micrographs. There is also a marked increase in the activity of certain red-cell enzymes.The positive aciddied-serum lysis test has proved useful in distinguishing HEMPAS from other kinds of hereditary dyserythropoietic anaemia. The greatly increased reactivity with anti-i (although characteristic of HEMPAS) is a less specific finding, since enhancement of the i antigen is found in other dyserythropoietic anaemias, hereditary and acquired. Although the lysis of HEMPAS cells by acidified serum at Red-Cell Abnormalities in H E M P A SAs in PNH, although several different, apparently independent, abnormalities have been discovered in HEMPAS cells, their relationship to the 'primary' abnormality remains obscure.

show abstract

Erythrocyte Enzymatic Abnormalities in HEMPAS (Hereditary Erythroblastic Multinuclearity with a Positive Acidified‐Serum Test)

Cited by 27 publications

References 15 publications

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

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

Два Клінічні Випадки Спадкової Дизеритропоетичної Анемії Іі Типу

Red‐Cell Abnormalities in HEMPAS (Hereditary Erythroblastic Multinuclearity with a Positive Acidified‐Serum Test)

Contact Info

Product

Resources

About