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Publications

Journal Article Epublish

PubMed: 40391043 DOI: 10.2147/JBM.S514273

Alpha+ Thalassemia in Northwestern Tanzania: Molecular and Hematological Insights From Newborn Screening.

J Blood Med 16:241-250

Authors: Emmanuela E Ambrose, Benson R Kidenya, Luke R Smart, Alphaxard Manjurano

Affiliations

  • Department of Pediatrics and Child Health, Catholic University of Health and Allied Sciences, Mwanza, Tanzania.
  • Department of Pediatrics and Child Health, Bugando Medical Centre, Mwanza, Tanzania.
  • Department of Biochemistry and Molecular Biology, Catholic University of Health and Allied Sciences, Mwanza, Tanzania.
  • Division of Hematology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
  • Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
  • Global Health Center, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
  • National Institute for Medical Research, Mwanza, Tanzania.

Abstract

Purpose

This study aimed to determine the prevalence of alpha+ thalassemia and its hematological indices in a newborn population in Mwanza city, North-western Tanzania.

Patients and Methods

A cross-sectional study screened 803 newborns for alpha+ thalassemia that extracted DNA from dried blood spots using the Qiagen Mini Kit then analysed by multiplex PCR. Demographic data, anemia-related clinical information, and CBC parameters were collected at birth. Prevalence was determined by the proportion of newborns with the alpha+ thalassemia deletion. Fisher's Exact test assessed differences in demographic and clinical variables, while Student's t-tests and ANOVA evaluated hematological parameters. A P-value < 0.05 was considered statistically significant.

Results

Alpha thalassemia was detected in 49.6% (398/803) of neonates, with 38.6% heterozygous and 11.0% homozygous deletions. Significant differences in erythrocyte indices were observed across groups. Hemoglobin (Hb) levels were lower in heterozygous (_α/αα) and homozygous (_α/_α) newborns (16.42±3.62 g/dl and 16.04±3.37 g/dl, respectively) compared to the αα/αα group (17.03±3.35 g/dl, p < 0.05). Mean Corpuscular Volume (MCV) was reduced in heterozygous (_α/αα) and homozygous (_α/_α) groups (99.23±9.12 μm³ and 94.75±9.88 μm³, respectively) compared to αα/αα (102.41±9.56 μm³, p < 0.0001). Mean Corpuscular Hemoglobin (MCH) followed a similar pattern, being lowest in the homozygous group (p ≤ 0.0001). Red Cell Distribution Width (RDW) was higher in homozygous (_α/_α) newborns (10.03±1.22) compared to heterozygous (_α/αα) (9.57±0.79, p < 0.001). Leucocyte counts were significantly higher in heterozygous (_α/αα) newborns (13.91±12.14) compared to homozygous (_α/_α) (12.60±7.91) and αα/αα groups (11.26±9.76, p = 0.001).

Conclusion

Alpha+ thalassemia is highly prevalent in North-western Tanzania and significantly affects blood indices. Neonatal screening is an effective tool for identifying affected children, especially in settings with high prevalence of a trait and low awareness of genetic inheritance.

MeSH

Blood, Infant, Newborn, Neonatal Screening, Alpha-Thalassemia, Thalassemia, Prevalence