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A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
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Screening for Structural Hemoglobin Variants in Bahia, Brazil.

Wellington Santos Silva1,2,3, Roberto Ferreira de Oliveira4, Sanzia Bezerra Ribeiro5

  • 1Bahia Adventist College, 44300-000 Cachoeira, Bahia, Brazil. profwellington@hotmail.com.

International Journal of Environmental Research and Public Health
|February 23, 2016
PubMed
Summary

Newborn screening in Bahia, Brazil, reveals a high frequency of sickle cell disease (SCD) and related hemoglobin variants. The study highlights the urgent need for a dedicated regional care center for affected children.

Keywords:
hemoglobin variantsnewborn screeningsickle cell disease

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Area of Science:

  • Genetics
  • Public Health
  • Hematology

Background:

  • Brazil received the largest number of enslaved Africans, with Bahia receiving the most.
  • Sickle Cell Disease (SCD) is a significant public health concern, particularly in regions with African ancestry.

Purpose of the Study:

  • To evaluate the coverage of newborn screening for SCD in Bahia's Recôncavo region.
  • To determine the frequency of hemoglobin variants (HbS and HbC) in neonates from 2006-2009.

Main Methods:

  • High-Performance Liquid Chromatography (HPLC) was used to analyze blood samples from newborns.
  • Data collected from 12 cities in the Recôncavo Baiano region.

Main Results:

  • 14,773 neonates were screened out of 16,402 births.
  • 1,416 neonates carried hemoglobin variants (HbS and/or HbC).
  • 47 children were diagnosed with SCD (20 HbSS, 27 HbSC), yielding a disease proportion of 1/314, significantly higher than Bahia's state rate of 1/650.

Conclusions:

  • The Recôncavo Baiano region exhibits a high prevalence of sickle cell disease.
  • There is a critical need for a specialized referral center for SCD patient care in this region.