Heterogeneity of sickle cell anaemia in Arabs: review of cases with various amounts of fetal haemoglobin.

Kamel, Karim

doi:10.1136/jmg.16.6.428

Cited by 12 publications

(10 citation statements)

References 10 publications

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“…However, more recent and detailed studies have revealed that two forms of SCD exist in Saudi Arabs, one with a mild course and another with a severe course, similar to that encountered in other populations [14,15]. Significant clinical diversity has been demon strated in disease severity in the different regions of Saudi Arabia and other Middle-Eastern countries [3,[19][20][21], Sev eral genetic and/or environmental factors have been pro posed to account for the heterogeneity of disease presen tation. Interactions between Hb S and other abnormal genes have been considered as possible modulators of the clinical manifestations of SCD [7,9,11], In an attempt to investigate and compare the clinical and haematological presentation of SCD in the different regions of Saudi Arabia and the influence of coexisting aand (l°-thalassaemia, this study was conducted on individ uals identified as Hb S homozygotes during screening of three areas of Saudi Arabia.…”

Section: Introductionmentioning

confidence: 98%

Heterogeneity and Variation of Clinical and Haematological Expression of Haemoglobin S in Saudi Arabs

El‐Hazmi¹

1992

Acta Haematol

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Sickle cell haemoglobin (Hb S) occurs at a high frequency in the Eastern (EP), South-Western (SWP) and North-Western (NWP) Provinces of Saudi Arabia and the presentation of the Hb S is believed to exhibit clinical diversity in the different regions. Three areas of Saudi Arabia were screened to determine the frequency of Hb S and α- and β-thalassaemias and glucose-6-phosphate de-hydrogenase deficiency genes. Furthermore, in an attempt to investigate and compare the clinical and haematological presentation of sickle cell disease (SCD) in the different regions of Saudi Arabia, the individuals identified as Hb S homozygotes were investigated further. The patients were further classified on the basis of whether there was associated α- or β-thalassaemia. A severity index (SI) was calculated for each patient and the clinical presentations and laboratory findings were compared. The results showed significantly variable severity of SCD in patients from different regions. The patients from the EP generally had a mild clinical presentation, while in the SWP and NWP majority of the patients suffered from a severe disease as judged by the SI. No correlation could be established between Hb F level and SI, though the WBC level correlated positively with the SI. The lowest SI values were encountered in patients with associated α-thalassaemia who also had the lowest WBC count and MCV and the highest RBC count and packed cell volume.

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Section: Introductionmentioning

confidence: 98%

Heterogeneity and Variation of Clinical and Haematological Expression of Haemoglobin S in Saudi Arabs

El‐Hazmi¹

1992

Acta Haematol

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“…The clinical manifestations of the disease in Arab patients (Saudi, Qatar, Oman, etc.) are usually milder than those of Africans; nevertheless, cases with severe manifestations in Arab patients do exist (4, 5). The milder manifestations in Arab patients are in part due to the frequent coinheritance of elevated levels of hemoglobin F (fetal), which inhibits the polymerization of HbS (6, 7).…”

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confidence: 99%

β‐Globin gene cluster haplotypes and HbF levels are not the only modulators of sickle cell disease in Lebanon

Inati¹,

Taher

Koussa³

et al. 2003

European J of Haematology

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Sickle cell disease (SCD) is an inherited autosomal recessive disorder of the beta-globin chain. Despite the fact that all subjects with SCD have the same single base pair mutation, the severity of the clinical and hematological manifestations is extremely variable. This study examined for the first time in Lebanon the correlation between the clinical manifestation of SCD and the beta-globin gene haplotypes. The haplotypes of 50 patients diagnosed with SCD were determined using polymerase chain reaction amplification of fragments containing nine polymorphic restriction sites around and within the epsilon-Ggamma-Agamma-psibeta-delta-beta-globin gene complex. Most reported haplotypes were found in our population with the Benin haplotype as the most prevalent one. When the patients were divided according to their HbF levels into three groups (Group A: HbF < 5%, Group B: HbF between 5 and 15%, and Group C: HbF > 15%), surprisingly, the highest levels of HbF were associated with the most severe clinical cases. Our findings suggest that fetal hemoglobin levels are important but not the only parameters that affect the severity of the disease. In addition, the high levels of HbF in patients with CAR haplotypes did not seem to ameliorate the severity of symptoms, suggesting that genetic factors other than haplotypes are the major determinants of increased HbF levels in Lebanon.

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“…The overall picture of sickle cell disease (SCD) in the UAE is that of mild-to-moderate severity similar to that observed in Eastern Saudi Arabia [17]. However, there are also reports of severe SCD similar to the African type [18, 19]. …”

Section: Genetic Disorders In the Uaementioning

confidence: 90%

United Arab Emirates: Communities and Community Genetics

Alwash¹,

Abdulrazzaq²

2005

Public Health Genomics

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The UAE society is cosmopolitan, but the indigenous inhabitants are traditional with puritanical values despite their exposure to other vastly different cultures and habits. Marriages between consanguineous couples are still the norm rather than the exception. As a result, there is a high frequency of genetic disorders, particularly autosomal recessive types. Despite the high frequency of genetic disorders like haemoglobinopathies and others characteristically found in this population, genetic services are inadequate. Screening for certain disorders like thalassaemia are not applied on a wide scale. Abortion is illegal, and therefore, prenatal diagnosis or preconception tests are not done. With the absence of a good national database, deficiency of genetic services and absence of preventative alternatives for carrier couples, genetic counsellors find it difficult to advice pragmatic solutions to issues relating to genetic diseases. This paper reviews common genetic problems in the UAE with special emphasis on available genetic services and support to families with children with inherited disorders. Existing barriers to the improvement of clinical services by prenatal counselling are also discussed.

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Heterogeneity of sickle cell anaemia in Arabs: review of cases with various amounts of fetal haemoglobin.

Cited by 12 publications

References 10 publications

Heterogeneity and Variation of Clinical and Haematological Expression of Haemoglobin S in Saudi Arabs

Heterogeneity and Variation of Clinical and Haematological Expression of Haemoglobin S in Saudi Arabs

β‐Globin gene cluster haplotypes and HbF levels are not the only modulators of sickle cell disease in Lebanon

United Arab Emirates: Communities and Community Genetics

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