The haemoglobins migrate under an electric field to a point in the pH gradient that corresponds to their pI (isoelectric point). The separated Hbs on the stained gel are evaluated by visual inspection. Protein patterns from known haemoglobin variants are used as references to identify the protein bands from unknown Hb samples. Reagents:

Hb D-Punjab is a variant derived from a point mutation in the beta-globin gene (HBB) in the first base of the 121 codon (G AA→ C AA) with the substitution of glutamine for glutamic acid (Glu>Gln) in the beta globin chain. 8 According to the Globin Gene Server database, besides Hb D-Punjab, there are seven other types of Hb D, caused by different...

Hemoglobin D (HbD) is a variant of hemoglobin, a protein complex that makes up red blood cells. Based on the locations of the original identification, it has been known by several names such as hemoglobin D-Los Angeles, hemoglobin D-Punjab, [1] D-North Carolina, D-Portugal, D-Oak Ridge, and D-Chicago.[2] .

We describe an index case whose CE-HPLC showed a compound heterozygous state for Hb-Punjab/HbD-Iran which was confirmed by family study, acid and alkaline electrophoresis and beta gene sequencing. This case highlights the role of alkaline and acid electrophoresis to resolve common peaks that elute with HbA2 on CE-HPLC.

HbD has been described in both the heterozygous and homozygous states as well as in combination with HbS or β-thalassemia. Hb D disease (HbDD) is characterised by mild haemolytic anemia and mild to moderate splenomegaly. Both HbDD and HbD trait may not be clinically significant to seek medical attention.

• Hb gel/HPLC migration patterns – Not helpful for α–Thalassemia, unless β4 (Hb H) and γ4 (Hb Barts) are present • Genetic analysis – MLPA: will identify all deletions and duplications – Multiplex PCR for 7 common deletions-only 7 common deletion – Alpha globin sequencing

below are the four most commonly encountered hemoglobin patterns that involve hemoglobin D. Hemoglobin D Trait ( phenotype: FAD in infants and AD in adults) Hemoglobin D trait results when the gene for hemoglobin D is inherited from one parent and a hemoglobin A gene

本专题将讨论珠蛋白基因变异，包括产生血红蛋白 (hemoglobin, Hb)C、D、E等特别常见的变异。 HbC基因检测结果的处理方法详见其他专题。 (参见 “基因检测解读：血红蛋白β基因座 (HBB) …

δ (hbd) 和β (hbb) 基因通常在成人中表达：两条α链加上两条β链构成 hba，在正常成人生活中约占总血红蛋白的 97%。 两条 α 链加上两条 δ 链构成 HbA-2，它与 HbF 一起构成成人血红蛋白的剩余 3%。

Among 800 samples tested, 553 (69.1%) were found to have normal HPLC pattern. Apart from β- thalassaemia, nine additional variants were encountered; HbS (2.8%), HbE (2.5%) and HbD (1.1%) being the most common variants present. Other variants included Hb Q-India, Hb-Lepore, δβ-thalassemia/ HPFH, HbD-Iran, HbJ-Meerut and HbH disease.