Haemoglobin C and haemoglobin O Arab-Thalassaemia in families of greek origin

Sharma, R.S.; Williams, Leslie; Baptist, N. G.; Fisher, Wendy K.; Thompson, Eop

doi:10.3109/00313027609094431

Cited by 10 publications

(7 citation statements)

References 18 publications

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“…Since then it has become apparent that the mutation is not of Arab but African origin ( Vella et al , 1966 ; Ibrahim & Mustafa, 1967; Bayoumi & Saha, 1987). This mutant has been reported within the historical confines of the Ottoman Empire (from the Middle East to Hungary), probably dispersed by the gene flow originating from the Sudanese contingents that formed part of the Turkish troops ( Kamel et al , 1967 ; Kantchev et al , 1965 ; Lie‐Injo & Sandono, 1958; Sharma et al , 1976 ; Bratu et al , 1975 ; Efremov et al , 1977 ).…”

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confidence: 83%

The erythrocyte effects of haemoglobin O_ARAB

Nagel

Krishnamoorthy

Fattoum³

et al. 1999

Br J Haematol

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Summary. To test the hypothesis that HbO ARAB induces an increase in red cell mean corpuscular haemoglobin concentration (MCHC), we studied members of four Tunisian families who were either homo-or heterozygous for HbO ARAB or were double heterozygotes for HbS and HbO ARAB . The a-gene status was also tested. The ®ndings included: (1) Distinctive variation in red cell density (MCHC) as determined by separation of red cells on isopycnic gradients: (a) All red cells from patients homozygous for HbO ARAB were denser than normal red cells, as is observed for homozygous HbC patients. (b) In patients heterozygous for HbO ARAB , red cell density was strongly in¯uenced by the presence of a-thalassaemia. The coexistence of Àa/aa resulted in an average red cell density slightly greater than normal (AA) red cells. Patients heterozygous for HbO ARAB with a normal complement of four a genes had denser red cells similar to sickle cell disease with some cells of normal density but with most cells very dense. (c) Finally, the double heterozygotes for HbS and HbO ARAB had signi®cant haemolytic anaemia and red cells denser than normal with some as dense as the densest cells found in sickle cell anaemia. (2) Reticulocytes in patients homozygous for HbO ARAB were found in the densest density fraction of whole blood. (3) Cation transport in patients homozygous for HbO ARAB was abnormal, with K:Cl cotransport activity similar to that of HbS-Oman and only somewhat lower than in sickle cell anaemia red cells. The activity of the Gardos channel was indistinguishable from that found in HbS, HbC and HbS-Oman cells.We conclude that the erythrocytic pathogenesis of HbO ARAB involves the dehydration of red cells due, at least in part, to the K:Cl cotransport system. The similarity of the charge and consequences of the presence of both HbC and HbO ARAB, which are the products of mutations at opposite ends of the b-chain, raises the possibility that this pathology is the result of a charge-dependent interaction of these haemoglobins with the red cell membrane and/or its cytoskeleton and that this abnormality is present early in red cell development.

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confidence: 83%

The erythrocyte effects of haemoglobin O_ARAB

Nagel

Krishnamoorthy

Fattoum³

et al. 1999

Br J Haematol

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“…Los casos que reportamos como hemoglobina O corresponden a la variante descrita por Ramot y las consideramos hemoglobina O Arabia, la cual es resultante de la sustitución de ácido glutámico por lisina en la posición 121 de la cadena beta. En su forma heterocigote la presencia de la hemoglobina O Arabia, puede condicionar una muy moderada anemia y escasos cambios morfológicos de los eritrocitos (11,12), con cierta frecuencia se encuentra en estado doble heterocigoto con la hemoglobina S (13,14,15; con βº y β+ talasemias (16,17,18,19,20,21) y con la hemoglobina C (14,15,22), produciendo un cuadro de anemia hemolítica, de moderada a severa intensidad en combinación con las hemoglobinas S, C, y βº talasemia y muy leve en el caso que coexista con β+ talasemia (16,17,18,19,20,21) y con la hemoglobina C (14,15,22), produciendo un cuadro de anemia hemolítica, de moderada a severa intensidad en combinación con las hemoglobinas S, C, y βº talasemia y muy leve en el caso que coexista con β + talasemia.…”

Section: Discusionunclassified

“…La distribución geográfica de la hemoglobina O Arabia es variada; ha sido encontrada en Saudi Arabia (20), Sudán (13) (26), Yemén (20), Bulgaria (16,17), Egipto (27), Grecia (22), Jamaica (15), Norteamerica (12,14,28) y población turca en Chipre (29).…”

Section: Discusionunclassified

Hemoglobina O arabia y hemoblobina Hofu: Reporte de tres familias en el Perú.

Hazan¹,

Navarro²,

Márquez³

et al. 2013

Rev Med Hered

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We report the finding of two abnormal hemoglobins in three Peruvian families: hemaglobin O Arab and Hemoglobin Hofu. In the first case the patient was found to be double heterozygous for hemoglobin O Arab/β thalassaemia and presents a moderate chronic hemolytic anemia. In the second family the propositus had a severe chronic of hemoglobin A/O Arab were asymptomatic. In the third case we report a family with a very mild chronic hemolytic anemia due to the presence of hemoglobyn Hofu. These two abnormal hemoglobin O Arabia was introduced in Peru and described the methodology used in the Laboratory to characterize the abnormal hemoglobins.

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“…It has been found mostly in families in Sinai [31], Main land Egypt [4,18], Sudan [17,38], Southern Yemen [4], Yugoslavia [12] and Bulgaria [19]. Hb O Arab has also been found in American Negro families [2], Greek families [34] and Jamaicans [25,28]. The highest incidence being reported in families from Bulgaria [20], and Yugoslavia [12,13].…”

Section: Introductionmentioning

confidence: 99%

Human Haemoglobins and Haemoglobinopathies in Arabia: Hb O Arab in Saudi Arabia

El‐Hazmi¹,

Lehmann²

1980

Acta Haematol

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In the Arabian peninsula, haemoglobinopathîes, though very interesting, are still far from being fairly established. With the exception of the eastern province of Saudi Arabia, where several aspects of the sickle-cell disease have been focused upon, few reports have appeared in the literature. However, in 1974 one of us (M. A. F. E. H.) has initiated a comprehensive investigation, in collaboration with the Ministry of Health on haemoglobinopathies in various parts of the country. These studies have revealed a new pocket for the sickle-cell gene and a new structural abnormality. In the present report we describe the first finding of Hb·Arab in Saudi Arabia, which may shed more light on the anthropological significance of this haemoglobin variant.

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Haemoglobin C and haemoglobin O Arab-Thalassaemia in families of greek origin

Cited by 10 publications

References 18 publications

The erythrocyte effects of haemoglobin O_ARAB

The erythrocyte effects of haemoglobin O_ARAB

Hemoglobina O arabia y hemoblobina Hofu: Reporte de tres familias en el Perú.

Human Haemoglobins and Haemoglobinopathies in Arabia: Hb O Arab in Saudi Arabia

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Haemoglobin C and haemoglobin O Arab-Thalassaemia in families of greek origin

Cited by 10 publications

References 18 publications

The erythrocyte effects of haemoglobin OARAB

The erythrocyte effects of haemoglobin OARAB

Hemoglobina O arabia y hemoblobina Hofu: Reporte de tres familias en el Perú.

Human Haemoglobins and Haemoglobinopathies in Arabia: Hb O Arab in Saudi Arabia

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The erythrocyte effects of haemoglobin O_ARAB

The erythrocyte effects of haemoglobin O_ARAB