Double heterozygous hemoglobin Q India/hemoglobin D Punjab hemoglobinopathy: Report of two rare cases

Mutreja, Deepti; Tyagi, Seema; Tejwani, Narender; Dass, Jasmita

doi:10.4103/0971-6866.124381

Cited by 12 publications

(17 citation statements)

References 4 publications

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“…Of the two cases reported by Mutreja et al (5), one patient had unconjugated hyperbilirubinemia, the cause of which remained unexplained. The HPLC and electrophoresis findings of our case are quite similar to the three prior cases (4,5). In conclusion, the case of this young woman with coinherited Hb Q-India/Hb D-Punjab highlights the importance of a step-wise logical approach incorporating parental study and use of an alternative second technique (Hb electrophoresis in our case) in resolving even unusual patterns on Hb HPLC.…”

Section: Case Historysupporting

confidence: 80%

“…Furthermore, the spuriously elevated Hb A 2 on alkaline electrophoresis was also explained as the hybrid migrates in the A 2 /C/E/O region by this technique. On searching the literature, this pattern was consistent with the HPLC retention times, peak characteristics and electrophoretic bands as well as the ethnic origin of the family (4,5).…”

Section: Case Historysupporting

confidence: 75%

“…This highly unusual pattern of coinheritance of Hb Q-India/Hb D-Punjab has previously been reported in the literature in only three persons (two males and one female), all of whom were also of Indian origin (4,5). This is not surprising as both variants are relatively common in this region.…”

Section: Case Historymentioning

confidence: 53%

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An Intriguing High Performance Liquid Chromatogram of a Double Heterozygosity for Hb Q-India/Hb D-Punjab

et al. 2014

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Cation exchange high performance liquid chromatography (HPLC) is commonly utilized as the first method of screening for thalassemias and hemoglobinopathies worldwide. This method of diagnosis requires knowledge of the clinical background and complete blood counts as well as skill and experience in interpreting the sometimes complex results produced. An asymptomatic 27-year-old pregnant North Indian woman was found to have a highly unusual chromatographic pattern with multiple unexpected peaks during routine antenatal screening. Most concerning was a C-window peak as Hb C (HBB: c.19G>A) is rare in ethnic Asian Indian populations. Cellulose acetate electrophoresis at alkaline pH (8.6) and parental screening were performed. These revealed the correct diagnosis to be a double heterozygosity for Hb Q-India (HBA1: c.193G>C) (an uncommon asymptomatic α-globin chain variant) plus Hb D-Punjab (HBB: c.364G>C) (a β-globin chain variant that is common in this region and is asymptomatic in the heterozygous state). The unexpected C-window peak was the hybrid of the abnormal α-Q-India and β-D-Punjab globin chains. Another small peak was explained as a variant Hb A2 formed by the combination of α-Q-India and δ-globin chains. Hematopathologists should be cognizant of the complex pattern resulting from coinheritance of both α- and β-globin structural variants. Second-line testing and parental testing are invaluable in resolving unknown peaks, especially if rare or unexpected variants are being considered. Although both Hb Q-India and Hb D-Punjab are relatively common in northwestern India, to the best of our knowledge, only two recent reports describe a total of three cases of such diagnostically puzzling coinheritance.

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Section: Case Historysupporting

confidence: 80%

Section: Case Historysupporting

confidence: 75%

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An Intriguing High Performance Liquid Chromatogram of a Double Heterozygosity for Hb Q-India/Hb D-Punjab

et al. 2014

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“… 2 Here, we describe a very rare compound heterozygous haemoglobinopathy, HbD Punjab/HbQ India [αα Q India ββ D Punjab ], which has been reported only two times in the literature to date, to the best of our knowledge. 5 , 6 …”

Section: Introductionmentioning

confidence: 99%

HbD Punjab/HbQ India compound heterozygosity: An unusual association.

Colaco

Surve

Sawant

et al. 2014

Mediterr J Hematol Infect Dis

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BackgroundHaemoglobinopathies are the commonest hereditary disorders in India and pose a major health problem. Both beta thalassaemia and structural haemoglobin variants are relatively common in northwestern India. Here we report a 29-year-old Sindhi female who was referred to us for a haemoglobinopathy work up and genetic counseling since her spouse was a classical beta thalassaemia carrier.MethodA complete blood count was done on an automated cell counter. Haemoglobin analysis was carried out using HPLC Variant Haemoglobin Testing System. The cellulose acetate electrophoresis was carried out [pH 8.9]. Confirmation of mutations was done by automated DNA sequencing.ResultsHPLC analysis showed four major peaks, HbA0, a peak in the HbD window, an unknown peak [retention time 4.74 minutes] and a peak in the HbC window. The HbA2 level was 2.2%, and the HbF level was 0.7%. Cellulose acetate electrophoresis at alkaline pH, a slow moving band was seen at the HbS/D position along with a prominent band at the HbA2 position. DNA sequencing of the β and α genes showed presence of the two hemoglobin variants: Hb D [β 121GAA → CAA] and Hb Q [α 64 AAG → GAG]. The δ globin gene was normal. The additional peak in the HbC window was due to the formation of a heterodimer hybrid.ConclusionBoth HbD Punjab and HbQ India are relatively common in India, but their co-inheritance has not been described in the country. This case is the third report of compound heterozygosity for HbQ India/HbD Punjab haemoglobinopathy globally and the second one from India.

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“…Similar family study for diagnosis of double heterozygous conditions has also been used in other studies. [1,9] Hb S-β Thalassemia : Hb S-β thalassemia is a double heterozygous state of Hb S and β-thalassemia. The clinical course is similar to that of Hb SS, however anaemia is comparatively milder than in sickle cell anaemia [4] .…”

Section: Hb E-β Thalassemiamentioning

confidence: 99%

Analysis of double heterozygous haemoglobinopathies from a tertiary care center in North India

Nambiyar

Kumar

Marwah

et al. 2017

APALM

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Double heterozygous hemoglobin Q India/hemoglobin D Punjab hemoglobinopathy: Report of two rare cases

Cited by 12 publications

References 4 publications

An Intriguing High Performance Liquid Chromatogram of a Double Heterozygosity for Hb Q-India/Hb D-Punjab

An Intriguing High Performance Liquid Chromatogram of a Double Heterozygosity for Hb Q-India/Hb D-Punjab

HbD Punjab/HbQ India compound heterozygosity: An unusual association.

Analysis of double heterozygous haemoglobinopathies from a tertiary care center in North India

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