Related Experiment Videos
[Alpha-thalassemia in Puglia. II. Neonatal screening for Bart's hemoglobin]
Insights
Newborn screening in Apulia detected Hemoglobin Bart's (Hb Bart's) in 7.8% of 550 umbilical cord blood samples. Most cases had minimal levels, but some showed significant Hb Bart's, necessitating further investigation.
Area of Science:
- Medical Genetics
- Hematology
- Neonatal Screening
Context:
- Screening of 550 umbilical cord blood samples from newborns in Apulia.
- Utilized Cellogel electrophoresis (Tris Glycine pH 8.6) for hemoglobin analysis.
Purpose:
- To detect and quantify Hemoglobin Bart's (Hb Bart's) in a newborn population.
- To identify the prevalence and levels of Hb Bart's in the studied cohort.
Summary:
- 43 out of 550 samples (7.8%) showed detectable Hb Bart's.
- 34 cases (6.18%) had non-measurable Hb Bart's levels.
- 9 cases (1.63%) exhibited measurable Hb Bart's ranging from 2.19% to 26%.
Impact:
- Identified a carrier rate for Hb Bart's in the Apulia region.
- Highlights the need for neonatal screening protocols for hemoglobinopathies.
- Provides data for understanding the genetic landscape of hemoglobin disorders in Southern Italy.
Abstract:
550 blood specimens from the umbilical cord of newborn babies from Apulia have been screened in order to detect Hb Bart's. The electrophoresis of the haemoglobin by Cellogel (Tris Glycine pH 8.6) carried out on the 550 specimens have revealed in 43 variable quantities of Hb Bart's: 34 cases (6,18%) showed non measurable quota, whereas in the other 9 cases (1,63%) Hb Bart's varied from 2,19% to 26%. The haemoglobin biosynthesis "in vitro" of the baby presenting 26% of Hb Bart's has been reported.