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

Rev Med Inst Mex Seguro Soc. 2016 Nov-Dec;54(6):793-800.
[Article in Spanish]


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.

Introducción: la hemoglobina D Punjab (HbD Punjab) es la variante mundial más frecuente de hemoglobina D. En México se tienen reportes de casos aislados. El objetivo es presentar el diagnóstico molecular de dos familias con HbD Punjab y sus características clínicas. Casos clínicos: familia 1: neonato cuya madre era portadora de HbS. El padre y la hermana tenían variante natural para las mutaciones evaluadas, madre, hermano y caso índice heterocigotos para HbD Punjab. Familia 2: neonato con tamiz neonatal positivo para la detección de hemoglobinas anormales. Madre y caso índice fueron heterocigotos para HbD Punjab, homocigotos para HFE H63, y heterocigotos para síndrome de Gilbert UGT1A1*28. Padre, heterocigoto para HFE H63D, y hermana homocigoto para dicha mutación. El estudio de las dos familias para HbD Punjab, HbS, beta-talasemia, HFE y síndrome de Gilbert se hizo mediante PCR en tiempo real. Conclusión: la identificación molecular de la HbD Punjab es una propuesta metodológica accesible y permite diferenciar adecuadamente a los portadores. A través de esta metodología se identificaron dos casos adicionales en nuestro país, uno de ellos identificado inicialmente como HbS.

Keywords: Abnormal hemoglobins; Neonatal screening; Sickle hemoglobin.

Publication types

  • Case Reports

MeSH terms

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


  • Genetic Markers
  • Hemoglobins, Abnormal
  • hemoglobin D Punjab