Abstract
Hemoglobin D-Punjab is the most common variant of hemoglobin D. In premarital screening, molecular testing is often unavailable, and diagnosis (and marriage guidance) often relies on the hemoglobin analysis, family studies and epidemiological facts. The use of latter methods sometimes results in hemoglobin D-Punjab/β-thalassemia double heterozygote being mistaken for its homozygote, which could be costly. We present the clinical and laboratory characteristics of hemoglobin D-Punjab phenotypes/genotypes in 15 individuals and review similar reports in the literature. We find that the quantity of hemoglobin D-Punjab in homozygotes is higher than in hemoglobin D-Punjab/β-thalassemia double heterozygotes, its fraction > 92% being consistent with homozygosis. The limitations of this diagnostic criterion are discussed, and clinical severity of this and other hemoglobin D-Punjab double heterozygotes reviewed.
Highlights
Hemoglobin D (Hb D) has more than a dozen variants among which Hb D-Punjab is most common [1], [2]
The use of latter methods has recently resulted in misdiagnosis of Hb D-Punjab/β-thalassemia double heterozygotes [3], [4]
This is a retrospective study of individuals with Hb DPunjab from a single hematology clinic in Al Ain, Abu Dhabi, United Arab Emirates (UAE)
Summary
Hemoglobin D (Hb D) has more than a dozen variants among which Hb D-Punjab is most common [1], [2]. The diagnosis and marriage guidance often rely on the results of hemoglobin analysis, family studies and epidemiological knowledge. The use of latter methods has recently resulted in misdiagnosis of Hb D-Punjab/β-thalassemia double heterozygotes [3], [4]. Some uncertainty might exist about other Hb D-Punjab double heterozygotes due to marked geographic variations in frequency of the Hb D and other major hemoglobinopathies, small number of reports, evolving methodology of analysis of hemoglobinopathies, and sometimes confusing terminology [1], [5]. We present Hb D-Punjab carrier phenotypes, review similar reports in the literature, and categorize the phenotypes/genotypes into three clinical groups: i) Benign ii) Afflicted iii) Uncertain
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