[Molecular identification of Hemoglobin D Punjab in cases detected in two families].

Abstract

BACKGROUND:

Hemoglobin D Punjab is the world most common variant hemoglobin D; in Mexico there are reports of isolated cases. Our goal is to present the clinical and molecular study in two families with HbD Punjab. The objective was to submit molecular diagnosis of two families with Hb D Punjab and clinical features.

CLINICAL CASE:

Family 1: neonate with maternal history of HbS carrier. Father and sister with natural variants for the evaluated mutations, mother, brother and index case were heterozygous for HbD Punjab. Family 2: neonate with positive neonatal screening for detection of abnormal hemoglobins. Mother and index case were heterozygous for HbD Punjab, homozygous for HFE H63D, and Gilbert's syndrome UGT1A1*28 heterozygous. Father heterozygous for HFE H63D and sister homozygous for such mutation. The study of two families for HbD Punjab, HbS, β-thalassemia, HFE and Gilbert syndrome was performed by real time PCR.

CONCLUSION:

The molecular identification of HbD Punjab is an accessible methodological proposal that can adequately distinguish carriers subjects; through this method two additional cases, one initially identified as HbS.

• Authors: Patricia Bouchán-Valencia, Georgina Coeto-Barona, Fany Rosenfeld-Mann, Rocío Trueba-Gómez, Héctor Baptista-González, Mariano Rivera-Echegoyén, Gerardo Rodríguez-Terán, Octavio Martínez-Villegas
• Journal: Revista medica del Instituto Mexicano del Seguro Social (Rev Med Inst Mex Seguro Soc) 2016 Nov-Dec Vol. 54 Issue 6 Pg. 793-800 ISSN: 2448-5667 [Electronic] Mexico
• Vernacular Title: Identificación molecular de la hemoglobina D Punjab en dos familias.
• PMID: 27819792 (Publication Type: Case Reports, Journal Article)

Chemical References

• Genetic Markers
• Hemoglobins, Abnormal
• hemoglobin D Punjab

Topics

• Adult
• Female
• Genetic Markers
• Hemoglobinopathies (diagnosis, genetics)
• Hemoglobins, Abnormal (genetics)
• Heterozygote
• Homozygote
• Humans
• Infant, Newborn
• Male
• Mutation
• Neonatal Screening
• Real-Time Polymerase Chain Reaction