Haemoglobin O in An Arab Family

Ramot, Bracha; Fisher, Sharon J.; Remez, Dina; Schneerson, Rachel; Kahane, D.; Ager, J. A. M.; Lehmann, Hansjörg

doi:10.1136/bmj.2.5208.1262

Cited by 43 publications

(6 citation statements)

References 4 publications

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“…The first case of hemoglobin O-Arab was described in 1960 in an Arab child suffering from sickle cell disease syndrome [10]. The genetic alteration leading to this Hb was revealed by protein sequencing on 1962 [11].…”

Section: Discussionmentioning

confidence: 99%

Molecular characterization of a discrete hemoglobinopathy upon investigation for a lung hydatic cyst in an old Tunisian patient

Moumni

Yalaoui²,

Ghrairi³

et al. 2011

Annales De Biologie Clinique

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We report the case of an old Tunisian patient hospitalized for a complicated hydatic cyst of the right lung. Primary laboratory investigation showed a microcytic hypochromic anemia with an abnormal hemoglobin pattern. Hemoglobin analysis and DNA sequencing of the ␤-globin gene revealed a compound heterozygote, HbO-Arab/cd 39 ␤ •-thalassemia. This hemoglobinopathy was never diagnosed earlier. It spent undiagnosed until the patient presented with hydatic cyst. Coexistence of the two pathologies complicated the general state of the patient and led to a severe anemia. The patient has undergone a surgical therapy for the hydatic cyst and was advised to start a follow up for her hemoglobinopathy.

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Section: Discussionmentioning

confidence: 99%

Molecular characterization of a discrete hemoglobinopathy upon investigation for a lung hydatic cyst in an old Tunisian patient

Moumni

Yalaoui²,

Ghrairi³

et al. 2011

Annales De Biologie Clinique

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“…son, Kahane, Ager, and Lehmann, 1960). Hb S always formed the major part and there was some sickle-cell disease-although it was milder than the homozygous sickle-cell anaemia.…”

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confidence: 98%

Sickle-cell Haemoglobin K Disease

O’Gorman¹,

Allsopp²,

Lehmann³

et al. 1963

BMJ

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“…Haemoglobin O ARAB was first described by Ramot et al (1960 ) in an Arab‐Israeli. 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).…”

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confidence: 99%

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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Haemoglobin O in An Arab Family

Cited by 43 publications

References 4 publications

Molecular characterization of a discrete hemoglobinopathy upon investigation for a lung hydatic cyst in an old Tunisian patient

Molecular characterization of a discrete hemoglobinopathy upon investigation for a lung hydatic cyst in an old Tunisian patient

Sickle-cell Haemoglobin K Disease

The erythrocyte effects of haemoglobin O_ARAB

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Haemoglobin O in An Arab Family

Cited by 43 publications

References 4 publications

Molecular characterization of a discrete hemoglobinopathy upon investigation for a lung hydatic cyst in an old Tunisian patient

Molecular characterization of a discrete hemoglobinopathy upon investigation for a lung hydatic cyst in an old Tunisian patient

Sickle-cell Haemoglobin K Disease

The erythrocyte effects of haemoglobin OARAB

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The erythrocyte effects of haemoglobin O_ARAB