Objective: To investigate the prevalence of haptoglobin (Hp) gene alleles in Kuwaiti sickle cell disease (SCD) patients, who generally have a mild phenotype, and compare the pattern to Nigerian SCD patients whose SCD phenotype is more severe. Subjects and Methods: Hp genotyping was carried out in a group of 82 and 54 SCD patients from Kuwait and Nigeria, respectively, and appropriate Hb AA controls. The Hp genotyping was done using a PCR technique followed by agarose gel electrophoresis. Results: The frequency of the Hp-2 allele was 73.8% among Kuwaiti SCD patients, while the Hp-1 allele predominated among Nigerian patients (60.7%). However, the differences were not significant (p > 0.05) when the allele distributions were compared between Kuwaiti SCD and their AA counterparts or between Nigerian SCD and their AA controls. There was no association of Hp-2 allele with frequent vaso-occlusive crisis among the Kuwaiti SCD patients. Conclusion: The distribution of Hp alleles appears to follow ethnic and geographical trends. Their role in the pathophysiology of pain crisis is not clear.

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Haptoglobin gene polymorphisms in sickle cell disease patients with different βS-globin gene haplotypes.

An understanding of the ABO and Rh blood group systems is important for blood transfusions and is also pertinent due to their potential association with certain morbidities and susceptibilities to infections. To investigate the diversity and differentiation of the ABO and Rh loci in Middle Eastern populations, data from twelve representative Middle Eastern populations were analyzed. Six populations were in conformity with Hardy-Weinberg equilibrium at the ABO locus. The pooled heterozygosity at both loci was calculated to be highest in the sample from Jordan and lowest in Bahrain. Heterogeneity was pronounced in the Northern compared to the Southern Middle Eastern populations. Overall, the absolute gene diversity was 0.0046 and gene differentiation was calculated to be 0.0100. Genetic diversity of the studied loci across all populations (HT) was estimated to be 0.4594, while the diversity within the populations (HS) was 0.4548. Nei's genetic distance analyses revealed highest affinities between the populations of Kuwait and Qatar, Oman and Yemen, and between Qatar and the United Arab Emirates. These results were displayed through a UGPMA dendrogram and principal component analyses, which established clustering of certain populations. Clinal trends of the allelic systems were observed by generating contour maps that allow a detailed appreciation of the distributions of alleles across the geography of the Arabian Peninsula and the Middle East. Taken together, these analyses are helpful in understanding the differentiation of blood group loci and for designing prospective studies for establishing the associations of these loci with health variables in the populations studied.

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Distribution and clinal trends of the ABO and Rh genes in select Middle Eastern countries.

Frequencies of ABO and Rh (D) groups vary throughout the world due to ethnic diversity. The distribution may also vary across country areas due to different ethnic groups. Oman is a genetically admixed population country consisting of African, Caucasian and Asian ancestries. Due to frequencies variation throughout the world and lack of study in Oman, this propelled us to determine the phenotypes and estimate the genetic variability of ABO and Rh (D) blood groups in the Omani population. This retrospective study concerning ABO and Rh (D) blood groups of a small section of the Omani population was undertaken between January 2017 and December 2017. The data were reviewed and calculations performed to determine ABO and Rh (D) phenotypes, allele frequencies and genotypes estimation. The results were compared with other populations. Three thousand four hundred and sixteen (3416) blood donors' data from Armed Forces Hospital blood bank were collected. Overall distribution of ABO group in Omanis is; group O (50.47%), group A (24.06%), group B (21.63%) and group AB (3.83%), whereas distribution of Rh (D) positive and Rh (D) negative is 91.65% and 8.35% respectively. Allelic frequency of A, B, O, D and d is 0.15, 0.14, 0.71 0.71 and 0.29 respectively. Genotype frequencies recorded as (AA = 0.0225, AO = 0.213, BB = 0.0196, BO = 0.1988, AB = 0.042, OO = 0.5041, DD = 0.5057, Dd = 0.411 and dd = 0.0833). The commonest ABO blood group in Omanis is O group while the AB group is the rarest with the sequence O > A > B > AB. The recorded frequencies appear to be intermediate between some other countries and different to some other Middle East regions including Arabs.

/pdf/abo-and-rh-d-phenotypes-allele-frequencies-and-estimated-6xpzk31p3q.pdf

ABO and Rh (D) Phenotypes, Allele Frequencies and Estimated Genotypes in Omanis: A Retrospective Study from Armed Forces Hospital

The distribution of phenotypic frequencies of ABO, Rh(D) system and Hp polymorphism in a sample from Muscat, Oman, revealed the following gene frequencies: P=0.164, q=0.110, r=0.726; D=0.738, d=0.262; Hp1=0.289 and Hp2=0.711. These frequencies are in good agreement with the distribution in the Euroasiatic continent.

A. Anelli

Papers

ABO, Rh(D) and haptoglobin distribution in a sample from the sultanate of Oman