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Introduction: Prospective blood donors are routinely screened for blood borne infections but medical illnesses and haemoglobin genotype are overlooked despite a high prevalence of haemoglobin AS among Nigerian donors., Objective: To determine the prevalence of haemoglobin AS and its association to renal function, if any., Method: Apparently healthy donors were studied between February and December 2018. Their haemoglobin genotype and, estimated glomerular filtration rates were determined., Results: There were 96 males (94.1%) and 6 (5.9%) females with mean age of 26.7±4.5 years (range 19-44 years) and mean eGFR of 103.97±19.00ml/min/1.73m2. Eighty one (79.4%) and 21 (20.6%) subjects had haemoglobin AA and AS genotypes respectively. The mean eGFR for subjects with haemoglobin AA and AS were 105.2±18.6ml/min/1.73m 2 and 99.9 ± 21.2ml/min/1.73m 2 respectively (p value = 0.270). Eighty one (79.4%), 20 (19.6%) and 1 (1.0%) subjects had renal function at >90ml/min/1.73m 2 , 60-89ml/min/1.73m 2 and 30-59ml/min/m 2 respectively. There was no significant difference in the mean eGFR between subjects with haemoglobin AA and AS (mean difference 5.3, p = 0.265, 95%CI = -4.07 to 14.60)., Conclusion: The prevalence of sickle cell trait among Nigerian blood donors is high. There is no significant difference in the renal function status of blood donors with SCT and normal haemoglobin genotype., (© 2021 Akinbodewa AA et al.)

Background: Haemoglobin genotype screening at prenatal care offers women an opportunity to be aware of their genotype, receive education on sickle cell disease (SCD) and may increase maternal demand for SCD newborn screening. In developed countries, most pregnant women who access prenatal care and deliver at the hospital receive haemoglobin genotype screening. In settings with low prenatal care attendance and low hospital deliveries, community-based screening may provide similar opportunity for pregnant women. We assessed the feasibility and acceptability of integrating haemoglobin genotype screening into an existing community-based HIV program., Methods: Onsite community-based integrated testing for HIV, hepatitis B virus and haemoglobin electrophoresis, were conducted for pregnant women and their male partners. Community Health Advisors implementing the NIH and PEPFAR-supported Healthy Beginning Initiative (HBI) program provided education on SCD, collected blood sample for haemoglobin electrophoresis and provided test results to participants enrolled into the HBI program. We concurrently conducted a cross-sectional study using a pretested, semi-structured, interviewer administered questionnaire to collect demographic data and assess awareness of individual haemoglobin "genotype" among HBI pregnant women participants., Results: In this study, 99.9% (10,167/10,168) of pregnant women who received education on SCD accepted and completed the survey, had blood drawn for haemoglobin electrophoresis and received their results. A majority of participating pregnant women (97.0%) were not aware of their haemoglobin "genotype". Among the participants who were incorrect about their haemoglobin "genotype", 41.1% (23/56) of women who reported their haemoglobin "genotype" as AA were actually AS. The odds of haemoglobin "genotype" awareness was higher among participants who were in younger age group, completed tertiary education, had less number of pregnancies, and attended antenatal care. Overall prevalence of sickle cell trait (AS) was 18.7%., Conclusions: It is feasible to integrate haemoglobin "genotype" testing into an existing community-based maternal-child program. Most pregnant women who were unaware of their haemoglobin "genotype" accepted and had haemoglobin genotype testing, and received their test results. Increasing parental awareness of their own haemoglobin "genotype" could increase their likelihood of accepting newborn screening for SCD.

Background: Sickle cell anemia (SCA) is a major genetic disease with the greatest burden in sub-Saharan Africa. To try to help reduce this burden, some churches in Nigeria conduct premarital sickle cell hemoglobin screening and refuse to conduct weddings when both individuals are identified as carriers of sickle cell trait., Main Body: This paper explores the ethical challenges involved in such denials. We assess whether churches have the right to decline to marry adults who understand the risks and still prefer to get married, and whether couples should be denied church weddings based on the risk that their child may suffer from sickle cell anemia. We examine the moral and ethical dimensions of such denials and explore the underlying socio-cultural context involving the purpose of marriage and the meaning of the wedding ceremony in societies where premarital screening is one of the few tools available to reduce the risk of having children with SCA. The potential role of the church is also examined against the background of church beliefs, the duty of the church to its members and its role in reducing the suffering of its members and /or their children., Conclusion: We argue that the church should impose these burdens on couples only if doing so promotes a sufficiently compelling goal and there is no less burdensome way to achieve it. We then argue that the goal of reducing the number of individuals in Nigeria who have SCA is compelling. However, testing earlier in life offers a less burdensome and potentially even more effective means of achieving this goal. This suggests that, advocating for earlier screening and helping to support these programs, would likely better promote the church's own goals of helping its parishioners, increasing the number of church weddings, and reducing the burden of SCA in Nigeria.

Background: The non-O blood group is an established risk factor for deep vein thrombosis (DVT), while controversy surrounds the role of sickle cell trait (SCT) as a risk factor for DVT. We hypothesised that if SCT is a risk factor for DVT, individuals with non-O blood groups and SCT (Hb AS) would have a higher risk of DVT than their counterparts with non-O blood groups and normal haemoglobin phenotype (Hb AA)., Materials and Methods: We retrospectively analysed the prevalence of SCT and non-O blood groups among 148 DVT patients with control subjects in order to determine the role of SCT as a risk factor for DVT and its impact on the risk of DVT among patients with non-O blood groups., Results: In comparison with control subjects, DVT patients had significantly higher prevalences of SCT (35.1% vs 27.7%, p=0.04) and non-O blood groups (68.9% vs 45.9%, p=0.02). The odds ratios for DVT due to SCT, non-O blood groups with normal Hb phenotype (Hb AA) and non-O blood groups with SCT (Hb AS) were 1.3, 2.4 and 3.5, respectively., Discussion: These results suggest that SCT by itself is a weak risk factor for DVT but it has the potential of escalating the DVT risk among patients with non-O blood groups. The combined effects of elevated clotting factors (non-O group effect) and increased clotting factor activation (SCT effect) were responsible for the escalated DVT risk among patients with co-inheritance of non-O blood groups and SCT. Co-inheritance of SCT and non-O blood group is, therefore, an important mixed risk factor for DVT. This should be taken into account when assessing DVT risk profiles of patients in Africa and other parts of the world where the SCT is prevalent.

Introduction: Sickle cell disease (SCD) is the most common inherited disorder of haemoglobin worldwide. This study evaluated the chromatographic patterns and red blood cell indices of sickle cell patients to determine the co-inheritance of other haemoglobin(Hb) variants and β-thalassaemia trait., Methods: Red cell indices, blood film, sickle solubility test, Hb electrophoresis using alkaline cellulose acetate membrane, and chromatographic patterns using Bio Rad HPLC Variant II were evaluated for 180 subjects., Results: Based on low MCV <76fL and MCH<25 pg, in the presence of elevated A₂ >4.0% on HPLC and Hb variants eluting outside the S and C windows, at least four haemoglobin phenotypes (SS: 87.7%; SC: 1.1%; SD Punjab: 0.6%; Sβ-thalassemia: 10.6%) were identified. Mean Hb F% was 8.1±5.1 (median 7.65) for Hb SS and 6.03±5.2 (median 3.9) for Hb Sβ-thalassemia trait. Majority of Hb SS (69.1%) had Hb F% less than 10 while 27.6% had 10-19.9 and 3.2% had ≥ 20. Mean Hb F% was higher in female Hb SS (9.55±5.09; mean age 7.4±3.8 years) than the males (7.63±4.80; mean age 6.9±3.8 years) (P=0.02). A borderline significant negative correlation between age and Hb F levels among Hb SS subjects (r= -0.169 P=0.038) was also observed., Conclusion: Our data suggests that α and β- thalassaemia traits, and other haemoglobin variants co-exist frequently with SCD in our population.

In regions of high Plasmodium falciparum malaria endemicity, certain erythrocyte polymorphisms confer resistance to severe disease. In this study, we evaluate the role of the sickle cell trait (HbS) and ABO blood groups in the clinical manifestations of childhood malaria in Southwest Nigeria. The subjects comprised 3100 children (53% males, median age 39 months), including 1400 children with uncomplicated malaria, 1000 children with asymptomatic malaria and 700 with severe malaria. Haemoglobin (Hb) types were determined using electrophoresis and serum agglutination techniques were used to determine ABO blood groups. Blood group O was the commonest ABO blood group (47.7%) in the study population, the others were A (22.5%), B (25.2%) and AB (4.6%). The frequencies of the HbAS and HbAC were 14.4% and 5.8%, respectively. In regression models adjusting for age, gender, parasite density and blood group, HbAS was associated with a reduced risk of severe malaria OR=0.46 (CI(95%): 0.273-0.773). Among severe malaria subjects, HbAS was associated with significantly lower parasite densities. The protective effect of blood group O was demonstrated with a decreased risk of severe malaria OR=0.743 (CI(95%): 0.566-0.976) after adjusting for age, gender and parasite density and Hb genotype. Blood group B was associated with increased risk of severe malaria OR=1.638 (CI(95%): 1.128-2.380) after adjusting for age, gender, packed cell volume, parasite density and Hb genotype. We have confirmed from this large study of Nigerian children the major protective effective of the sickle cell heterozygous state against both cerebral malaria and severe malarial anaemia. We also show that the B blood group is associated with an increased risk of severe malaria. In conclusion, the sickle cell haemoglobin type and ABO groups modulate the risk of severe malaria in Nigerian children., (Copyright © 2012 Elsevier B.V. All rights reserved.)

Background: The sickle (betas) mutation in the beta-globin gene (HBB) occurs on five "classical" betas haplotype backgrounds in ethnic groups of African ancestry. Strong selection in favour of the betas allele - a consequence of protection from severe malarial infection afforded by heterozygotes - has been associated with a high degree of extended haplotype similarity. The relationship between classical betas haplotypes and long-range haplotype similarity may have both anthropological and clinical implications, but to date has not been explored. Here we evaluate the haplotype similarity of classical betas haplotypes over 400 kb in population samples from Jamaica, The Gambia, and among the Yoruba of Nigeria (Hapmap YRI)., Results: The most common betas sub-haplotype among Jamaicans and the Yoruba was the Benin haplotype, while in The Gambia the Senegal haplotype was observed most commonly. Both subtypes exhibited a high degree of long-range haplotype similarity extending across approximately 400 kb in all three populations. This long-range similarity was significantly greater than that seen for other haplotypes sampled in these populations (P < 0.001), and was independent of marker choice and marker density. Among the Yoruba, Benin haplotypes were highly conserved, with very strong linkage disequilibrium (LD) extending a megabase across the betas mutation., Conclusion: Two different classical betas haplotypes, sampled from different populations, exhibit comparable and extensive long-range haplotype similarity and strong LD. This LD extends across the adjacent recombination hotspot, and is discernable at distances in excess of 400 kb. Although the multi-centric geographic distribution of betas haplotypes indicates strong subdivision among early Holocene sub-Saharan populations, we find no evidence that selective pressures imposed by falciparum malaria varied in intensity or timing between these subpopulations. Our observations also suggest that cis-acting loci, which may influence outcomes in sickle cell disease, could lie considerable distances away from beta-globin.

Background: The sickle cell trait is a benign asymptomatic condition that should not ordinarily be associated with clinical manifestations of a haemoglobinopathy., Method: This is a case control study of sickle cell trait patients who presented with symptomatology of a haemoglobinopathy. HbA2, HbF and HbS levels as well as the haematocrit and the peripheral film pictures of 10 symptomatic individuals (patients) with the sickle cell trait were compared with those of 20 asymptomatic individuals (controls) with the sickle cell trait., Results: The mean HbA, of the cases was 4.9% compared to the mean of 2.2% for the controls (p < 0.0001). Nine of the patients and none of the controls had a raised HbA, (> 3.5%). The mean HbF of the patients was 5.6% with a range of 1.2-14.0% while the mean of the control was 2.0% and a range of 0. 7-8.4% (p = 0.006). Six (30%) of the controls had normal HbF level (<1%) while none of the patients had a normal HbF level. The mean haematocrit of the patients and controls were 0.33 and 0.37 respectively (p = 0.009). HbS level was below 40% in both groups. Pregnancy did not significantly affect the mean HbF, the mean HbF for pregnant and non-pregnant cases were 2.1% and 3.8% respectively., Conclusion: These findings suggest that the prevalence of the thalassaemia trait may be higher among Nigerians than previously thought with the clinical severity masked by the co-inheritance of other genes like thalassaemia that occur frequently in the same population.

Background: Alteration in the location and number of palmar creases has been found in association with certain disorders. The extra transverse digital crease (ETDC) has been reported in sickle cell disease. This study was carried out to determine the importance of ETDC as a diagnostic tool for sickle cell disease amongst Nigerians., Methods: Medical students and student nurses with available hemoglobin electrophoresis records were studied. Their palms were examined for the presence of ETDC., Results: An ETDC was present in 80 of 178 (44.9%) cases with genotype AA, 26 of 68 (38.2%) cases with sickle cell trait (AS, 65; AC, 3), and 10 of 22 (45.4%) cases with sickle cell disease (SS)., Conclusions: The results from our study show that the ETDC is not a diagnostic sign of sickle cell disease in Nigerians.

Sickle Cell disease is a major genetic disorder in tropical Africa; its severity is often ameliorated by the presence of high levels of HbF, which is genetically determined. HbF was assessed in healthy Nigeria adults using the two minutes alkali denaturation method of Betke. The subjects studied included twenty-six males and twenty-four females all with HbA this was compared with twenty heterozygotes (HbAS). The mean HbF of the entire subject studied was 2.5 +/- 1.7% (range 0.4-12.8%). The mean value for Individuals with HbA genotype was 2.7 +/- 3.4% (range 0.4-12.8%). While the AS subject had a mean of 2.4 +/- 2.2% (range 0.7-8.4%). Twenty-two percent of the population studied had value greater than 3%. The high Level of HbF among healthy adults is believed to be genetic and related to the high prevalence of sickle cell disease in this sub-region. The association between HbF and high Persistence of fetal haemoglobin (HPFH) and the thalassaemias are discussed.

The hypothesis that chloroquine-induced pruritus (CIP) may be determined by certain genetic factors was tested by investigating the epidemiology of CIP with respect to certain genetic red cell markers namely, haemoglobin genotype, glucose-6-phosphate dehydrogenase (G6PD) deficiency and the ABO blood groups. Three hundred consecutive patients treated for malaria with chloroquine at the University College Hospital, Ibadan, Nigeria were recruited into the study. They were observed over 3 days for presence of CIP. ABO blood groups, G6PD and Hb genotypes were determined appropriately for each patient. One hundred and twenty four (41.3%) of the patients responded positively to CIP. There was a reduced frequency of the sickle cell trait (HbAS) among itchers relative to non-itchers. This suggests that the trait may be protective against CIP. G6PD deficiency was also found to be relatively more common among itchers than non-itchers. This indicates that G6PD deficiency may increase susceptibility to CIP. There was however no difference in the distribution of itchers among the different ABO blood groups. It was concluded that CIP may be associated with certain genetic red cell markers particularly Hb and G6PD types which are known malaria markers but not ABO blood groups.

Pituitary gland dysfunction and its contribution to menarcheal delay in sickle cell anaemia patients was investigated. Ten SS patients mean age 17.5 years who had not achieved menarche were recruited and 10 each of AS and AA controls, mean ages 17.4 and 17.7 years were used as controls to study the effect of the heterozygous state. Dynamic studies with LHRH and TRH were performed for 60 minutes and LH, FSH, PRL and TSH assays were done. Median basal values were significantly lower in the SS patients compared with the AS and AA controls for LH, FSH and PRL. LH: 3.0; 7.1; 7.7 U/L, FSH: 2.1: 4.3: 5.1 U/L. PRL: 94.5; 590; 390 U/L, respectively. The median basal TSH values did not show any significant difference between the SS subjects (7.3 U/L) and the AS and AA controls (5.4 U/L) and 5.6 U/L, respectively. The readily releasable pool also showed the same pattern for LH, FSH and PRL as the basal values while the SS subjects had higher median TSH releasable pool values that were significantly different from those of the AA controls. From the prolactin responses three subjects demonstrated maturational delay in menarcheal achievement while seven demonstrated isolated gonadotrophin deficiency. It is concluded that SS patients with delayed menarche have a hypothalamopituitary axis dysfunction that gives rise to delay in menarcheal achievement and metabolic adaptations to stress of illness. The heterozygous state did not delay menarcheal onset.

The frequency of foetal haemoglobin (HbF) and haemoglobin (Hb) levels were determined among 108 subjects with different haemoglobin genotypes in Calabar, between March and October, 1996. Hb-genotype was determined using the cellulose acetate method, while HbF and Hb were estimated using the modified Betke alkaline denaturation method and cyanmethaemoglobin techniques respectively. Haemoglobin genotype SS individuals had the highest mean HbF concentration of (3.05 +/- 1.61) as compared to AA and AS subjects with means of 0.195 +/- 0.25 and 1.072 +/- 0.98 respectively. This relationship was statistically significant (P < 0.02). On the other hand, AA subjects had the highest mean haemoglobin concentration (12.79 +/- 1.19) while SS subjects had the lowest (10.65 +/- 2.06). This study has indicated the persistence of HbF into adult life in this locality. Since HbF is associated with natural anti-sickling properties, its role as a monitoring factor in the management of sickle cell anaemia is examined in detail.

Different proposals have been offered to explain the polymorphism of the sickle cell hemoglobin gene. One of these proposals (Eaton and Mucha 1971) suggested that differential fertility of male subjects with the sickle cell trait contributes to the persistence and stability of the sickle cell gene frequency. Eaton and Mucha claimed that oligospermia, induced by hyperpyrexia, is a less common problem in these subjects because they probably have milder and shorter episodes of fever from malaria infection than subjects with a normal genotype. We have looked for evidence to support this hypothesis by comparing the testicular function, testicular size, and serum concentrations of the reproductive hormones in adult male subjects with the sickle cell trait and in an age-matched group of subjects with normal hemoglobin genotype. The mean serum concentration of testosterone, luteinizing hormone, follicle-stimulating hormone, and prolactin of both groups, measured by radio-immunoassay, were not statistically different from each other. Also, there was no detectable difference in any of the common indexes of semen quality between the two groups. The testicular volume index and several anthropometric indexes of subjects with the sickle cell trait and subjects with the normal hemoglobin genotype were also statistically similar. The results suggest that gonadal function is similar in adult males with the normal genotype and those with the sickle cell trait. Any increase in fertility observed in the latter group is probably due to extragonadal factors.

The haematological indices and clinical manifestations of sickle cell disease (SCD) patients were investigated in a combined group of male and female Nigerians, and the results were matched against those from non-SCD individuals. Haemoglobin concentrations (Hb), red blood cell count (RBC) and packed cell volume (PCV) were significantly lower in the haemoglobin SS (HbSS) individuals than in the haemoglobin AS (HbAS) and haemoglobin AA (HbAA) individuals. White cell count (WBC) was of course higher in the HbSS patients as was the foetal haemoglobin (HbF) also. The clinical investigations show a 16% incidence of leg ulceration amongst the SCD patients and a 25% incidence of 'crisis state' requiring blood transfusion. Comparison of these findings with those obtained for Jamaicans and Saudi Arabian sickle cell patients show several differences indicating a milder disease in the Nigerian than the Jamaicans.

Erythrocyte and plasma magnesium concentrations were measured in 168 subjects. Eighty three of the subjects were sickle-cell anaemia patients (sicklers) with haemoglobin genotype HbSS, and in the steady state; 30 were subjects who had the sickle-cell trait (HbAS), and 55 were subjects with the normal haemoglobin genotype HbAA. All the subjects were aged between 10 and 16 years. The sicklers had significantly lower erythrocyte (P less than 0.01) concentrations when compared with the normal subjects or subjects with the sickle-cell trait. Erythrocyte and plasma magnesium concentrations in subject with the sickle-cell trait were not significantly different from the corresponding values in the normal subjects. A significant negative correlation (r = -0.2661, P less than 0.02) was observed between erythrocyte magnesium and plasma magnesium in the sicklers only. However, magnesium concentrations in erythrocyte and plasma were not related to age, sex and physical stature in the three study groups. These results suggest that sickle-cell anaemia patients may be magnesium deficient.

Northern Nigeria is an endemic area for sickle haemoglobin (HbS), and it is common practice in many hospitals to accept blood for transfusion from donors with sickle cell trait (HbAS). In 212 healthy HbAS blood donors, the proportion of HbS was found to range between 24-47%. The HbS levels less than 38% were presumably due to the interaction of sickle-cell gene with the alpha + thalassaemia gene. Low HbS levels and presumed alpha + thalassaemia were associated with significant microcytosis and relatively low Hb A2 and Hb F, but differences were minimal. Carriers of sickle cell trait, with or without alpha + thalassaemia, appear to be acceptable as blood donors. Beta thalassaemia was not detected amongst 710 blood-donors.