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Sickle cell disease in Saudi Arabs in early childhood
Insights
Early screening for sickle cell disease in eastern Saudi Arabia identified significant prevalence. Affected infants showed increased morbidity but lower rates than in Western populations, highlighting the need for comprehensive care.
Area of Science:
- Medical Genetics
- Pediatrics
- Hematology
Background:
- Sickle cell disease (SCD) is a significant global health concern.
- Early detection and management are crucial for improving outcomes in SCD patients.
- Saudi Arabia has a diverse genetic landscape, necessitating regional SCD screening data.
Purpose of the Study:
- To screen infants in eastern Saudi Arabia for sickle cell disease.
- To assess the prevalence of SCD and its subtypes.
- To evaluate the clinical course and associated factors in affected infants.
Main Methods:
- Hemoglobin electrophoresis screening of 2341 infants.
- Follow-up of affected infants from birth to a mean of 3.5 years.
- Comparison with matched Saudi Arab controls and international cohorts.
- Assessment of coexistent alpha-thalassemia in a subsample.
Main Results:
- Prevalence of sickle cell trait (20%) and sickle cell disease (43 cases: 37 HbSS, 6 S-beta(0) thalassaemia).
- Higher morbidity and mortality in affected infants compared to controls, but lower than in US/Jamaican black infants.
- Lower serial hemoglobin levels (1 g/dL) but similar growth parameters.
- Coexistent alpha-thalassemia in half of the subsample, potentially protecting against functional asplenia, without affecting anemia severity or clinical course.
Conclusions:
- Early hemoglobin electrophoresis screening is vital for identifying infants at risk of sickle cell disease in eastern Saudi Arabia.
- Comprehensive care is recommended for all SCD patients, including those with less severe forms.
- Findings suggest regional variations in SCD clinical presentation and potential protective factors like alpha-thalassemia.
Abstract:
Haemoglobin electrophoresis screening of 2341 infants from the oases of eastern Saudi Arabia, performed in an attempt to detect cases early and then to follow up and give better management to patients with sickle cell disease, showed 20% with S-trait and 43 with sickle cell disease (37 HbSS and 6 S-beta(0) thalassaemia). On follow-up from birth (or from 3 months) for a mean of 3 1/2 years there was more morbidity and mortality than in matched Saudi Arab controls, but these rates were lower than for affected black infants in the US or Jamaica. Serial haemoglobin levels were l g/dl lower than for controls; height and weight increases were the same. Mean fetal haemoglobin level was 32% at 4-5 years. Half of a subsample of 23 cases had evidence of coexistent alpha-thalassaemia which appeared to protect against functional asplenia, judged by the presence of Howell-Jolly bodies; however there was no difference in degree of anaemia or clinical course. Early screening is recommended for infants at risk for sickle cell disease, and comprehensive care should be given even if the infant has the less severe type.