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[Initial description of hemoglobin D Punjab in an Austrian family]
Insights
Haemoglobin D Punjab, a rare variant, was identified in a pregnant Austrian woman. This finding highlights the importance of haemoglobin screening during pregnancy for identifying genetic conditions.
Area of Science:
- Medical Genetics
- Hematology
- Biochemistry
Background:
- Screening for gestational diabetes in pregnant women can incidentally detect other hematological conditions.
- Haemoglobin variants are common globally, but their prevalence varies by geographic origin.
Observation:
- An unusual splitting of the A1 peak was observed during high-pressure liquid chromatography (HPLC) analysis of a pregnant woman's haemolysate.
- This observation prompted further investigation to rule out diabetes-related changes and identify potential haemoglobin abnormalities.
Findings:
- Further analysis, including electrophoresis and peptide sequencing, identified the abnormal haemoglobin as Haemoglobin D Punjab (beta 121 Glu-Gln).
- This represents the first documented case of Haemoglobin D Punjab in Austria.
- Family studies confirmed the presence of Haemoglobin D Punjab in 3 out of 6 relatives tested.
Implications:
- This case underscores the significance of comprehensive haemoglobin analysis in prenatal screening programs.
- Understanding the geographical spread of haemoglobin variants like Haemoglobin D Punjab is crucial for public health initiatives.
- Further family investigation will provide more insights into the genetic transmission of this haemoglobinopathy.
Abstract:
Haemoglobin D Punjab was detected in a slightly overweight, but otherwise healthy pregnant woman when she was tested for gestational diabetes within the framework of a screening programme. Chromatographic evaluation of the haemolysate by high-pressure liquid chromatography (HPLC) revealed an unusual "splitting" of the A1 peak into two minor peaks. A diabetes-independent haemoglobin variant was suspected and further investigations, including electrophoresis, purification and sequential analysis of the tryptic peptide, identified the abnormal haemoglobin as haemoglobin D Punjab (beta 121 Glu-Gln). This is the first report of this haemoglobin variant in Austria. Various possible modes of geographical spreading of the gene from Punjab (India) are discussed, the land-route via Turkey being the most favourable hypothesis in this case. An investigation of 6 out of 7 living members of the family was undertaken. In 3 instances haemoglobin D Punjab was confirmed by HPLC and electrophoresis. The investigation of the family is currently being expanded to include a total of five generations.