Although Nigeria has the highest burden of sickle cell disease (SCD) worldwide, there is still variable and poor utilisation of standard-of-care practices for SCD patients in the country. This was a questionnaire survey of doctors in some dedicated SCD clinics in Nigeria in order to document the facilities available and common management practices. There were responses from 18 clinics based in 11 institutions. The number of patients being followed in each centre ranged from 15 to approximately 11 000. All clinics provided malaria prophylaxis and folic acid routinely to their patients. Only eight clinics prescribe penicillin prophylaxis. Eight prescribe hydroxyurea to patients who can afford it when indicated. All of the centres except three have electronic cell counters, but all had access to haemoglobin electrophoresis. Three had high-performance liquid chromatography machines installed but none was being routinely used. One institution had a functioning molecular biology laboratory. There is no official newborn screening programme in the country. All had access to microbiology and chemistry laboratories. Nine institutions had CT, six had MRI and three had transcranial Doppler facilities. The care available for SCD in Nigeria is still suboptimal and there is an urgent need for concerted effort to tackle the problem, but to make a significant impact on the burden of the disease would require more focus at the primary care level. Some steps to achieving this are outlined.

Sickle cell disease (SCD) is phenotypically heterogeneous. One major genetic modifying factor is the patient’s fetal hemoglobin (HbF) level. The latter is determined by the patient’s β-globin gene cluster haplotype and cis- and trans-acting single nucleotide polymorphisms (SNPs) at other distant quantitative trait loci (QTL). The Arab/India haplotype is associated with persistently high HbF levels and also a relatively mild phenotype. This haplotype carries the Xmn1 (C/T) SNP, rs7482144, in the HBG2 locus. The major identified trans-acting QTL contain SNPs residing in the BCL11A on chromosome 2 and the HMIP locus on chromosome 6. These collectively account for 15–30% of HbF expression in different world populations and in patients with SCD or β-thalassemia. Patients with SCD in Kuwait and Eastern Saudi Arabia uniformly carry the Arab/India haplotype, but despite this, the HbF and clinical phenotypes show considerable heterogeneity. Pain episodes and avascular necrosis of the femoral head are particularly common, but severe bacterial infections, stroke, priapism, and leg ulcers are uncommon. Moreover, the HbF modifiers appear to be different; the reported BCL11A and HMIP SNPs appear to play insignificant roles. There are probably novel modifiers to be discovered in this population. This review examines the common clinical phenotypes in Kuwaiti patients with elevated HbF and the available information on HbF modifiers. The response of the patients to hydroxyurea is discussed. The presentation of patients with other sickle compound heterozygotes (Sβthal and HbSD), vis-à-vis their HbF levels, is also addressed critically.

Objective: This study was designed to document the common causes and patterns of hospitalization among sickle cell disease (SCD) patients in Kuwait. Subjects and Methods: The case files of all SCD patients admitted to the hospital between 1995 and 2004 were studied. Their personal data, hemoglobin genotype, diagnosis on admission, complete blood count, treatment received, length of stay and outcome were documented. Results: Fifty SCD patients aged from 10 months to 14.8 years (mean: 8.7 ± 2.8 years) had 351 admissions over the 10-year period accounting for 0.6% of all admissions to the pediatric wards. The 50 patients were made up of 18 Hb SS, 28 Sβ⁰thal and 4 Hb SD patients. Common causes of admission were vaso-occlusive crisis: 222 (63.2%), acute splenic sequestration crisis: 32 (9.1%), hemolytic crisis: 31 (8.8%) and acute chest syndrome: 23 (6.6%). Stroke was seen in only 1 patient, and bacteriologically proven (Salmonella) acute osteomyelitis in 1 patient. There were no deaths during the study period. Conclusions: Vaso-occlusive crisis was the commonest cause of hospitalization among our SCD patients. Efforts should be intensified to give advice on preventive measures. The use of hydroxyurea should be encouraged in patients with frequent severe pain crises.

Sickle cell disease (SCD) is a major genetic disease that manifests early in life and may lead to significant morbidities. One of the health care services that have been effective in reducing the burden of SCD in developed countries is newborn screening (NBS) followed by pneumococcal vaccines, penicillin prophylaxis, and hydroxyurea treatment. Yet, in sub-Saharan African countries, where about 75% of annual affected babies worldwide are born, NBS programmes are largely unavailable. It is not clear whether this is due to technical challenges associated with setting up such programmes, or significant cultural and social barriers to its acceptance in such settings. Our aim was to ascertain the attitudes to and acceptability of NBS in Nigeria among various socio-demographic groups including health professionals, undergraduate students, parents of children with SCD and SCD patients. Data on socio-demographic characteristics, knowledge of SCD and attitude towards NBS were collected using a semi-structured pre-tested questionnaire from April to July 2014 across 15 health institutions and university campuses in Nigeria. Data were collected from 1,301 respondents across Nigeria. There was good knowledge of SCD as an inherited blood disorder. Although 86% of respondents (n = 1,119) supported NBS, there was a statistically significant relationship between support for NBS and age (p = 003), educational status (p = 000) and religion (p = 000). This study suggests that there is a good acceptability of NBS across Nigeria. The main barriers to its use are likely to be financial and practical, rather than social or cultural.

Objective: This study aimed to document the transition of hemoglobin (Hb) F levels from early childhood to adulthood in Kuwaiti sickle cell disease patients, investigating its relationship to sex, Hb genotype and coexistence of α-thalassemia trait. Subjects and Methods: The following parameters were extracted from the patients’ records: age, sex, Hb, mean corpuscular volume, mean corpuscular Hb, red blood cell count, Hb F, Hb S, Hb A2 and α-globin genotype. Hb quantitation was performed with cation exchange HPLC, while α-globin genotype was determined by PCR. Results: Records were available for 149 patients, made up of 94 SS and 55 Sβ⁰thal; 83 males and 66 females, aged 3 months to 60 years (mean 10.5 ± 1.8). The mean Hb F level in the whole population was 21.5 ± 8.1% and was not significantly different between males and females, and SS or Sβ⁰thal. When the age groups were analyzed, the Hb F level was highest (28.9 ± 10.9%) in those below 5 years. Indeed, patients ≤2 years had a mean level of 31.9 ± 13.0%. There was no significant difference in the Hb F levels in SS patients with or without coexistent α-thal trait. Conclusions: Kuwaiti sickle cell disease patients below 5 years of age have close to 30% Hb F and this is probably a major reason why they usually do not present before this age, unlike patients elsewhere who present within the first year of life.

Introduction Safe, timely red blood cell transfusion saves lives and chronic transfusion therapy (CTT) prevents or limits morbidities such as stroke, therefore improving quality of life of patients with sickle cell disease (SCD). Methods This questionnaire-based study assessed the ability of sickle cell centers in Nigeria to provide safe blood to patients with SCD between March and August 2014. Results Out of the 73 hospitals contacted, responses were obtained from 31. Twenty four (78%) hospitals were unable to transfuse patients regularly due to blood scarcity. Packed red blood cells were available in 14 (45%), while only one provided leukocyte-depletion. Most centers assessed donor risk and screened for HIV in 30 (97%), hepatitis B in 31(100%) and hepatitis C in 27 (87%) hospitals. Extended phenotyping and alloantibody screening were not available in any center. A quarter of the hospitals could monitor iron overload, but only using serum ferritin. Access to iron chelators was limited and expensive. Seventeen (55%) tertiary hospitals offered CTT by top-up or manual exchange transfusion; previous stroke was the most common indication. Conclusion Current efforts of Nigerian public hospitals to provide safe blood and CTT fall short of best practice. Provision of apheresis machines, improvement of voluntary non-remunerated donor drive, screening for red cell antigens and antibodies, and availability of iron chelators would significantly improve SCD care in Nigeria.