Comparison of the characteristics of two hemoglobin variants, Hb D-Iran and Hb E, eluting in the Hb A2 window

Dass, Jasmita; Gupta, Aastha; Mittal, Suchi; Saraf, Amrita; Langer, Sabina; Bhargava, Manorama

doi:10.5045/br.2017.52.2.130

Cited by 10 publications

(8 citation statements)

References 13 publications

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“…According to our study out of 40 confirmed cases of Hb D Iran, 23 cases (57.5 %) were heterozygous for Hb D Iran, 15 cases (37.5%) were of compound heterozygotes of β/ Hb D Iran out of which one was compound heterozygous for β 0 /Hb D Iran and 2 cases (5%) were of homozygous Hb D Iran. The frequency of Hb D Iran heterozygous state was higher (86%) however compound heterozygotes of β/ Hb D Iran was lower (3.4%) in New Delhi as reported by Dass J et al 7 There have been very few studies on this hemoglobin variant in Pakistan. Ali A et al reported a single case report of compound heterozygous state of β/ Hb D Iran in a young six months pregnant primigravida of Kashmiri origin in 2019 12 .…”

Section: Resultsmentioning

confidence: 82%

“…A number of reasons contribute to the apparent low prevalence of Hb D Iran. First and foremost, Hb D Iran in heterozygous and homozygous form is clinically silent except for cases of compound heterozygotes of β/Hb D Iran which present with mild to moderate anemia, fatigue and weakness [7]. Majority of homozygous and heterozygous cases are detected retrospectively as a part of extended family screening.…”

Section: Resultsmentioning

confidence: 99%

“…It is also important to differentiate Hb D-Iran from Hb D-Punjab essentially in the cases of compound heterozygous Hb D Punjab/ Hb S. This is because Hb D Punjab promotes sickling in compound heterozygous Hb D-Punjab /Hb S state. Conversely, Hb D-Iran/ Hb S is a clinically benign syndrome [7]. Therefore use of two different techniques using different principles is absolutely mandatory to give a confirm diagnosis of a hemoglobin variant.…”

Section: Resultsmentioning

confidence: 99%

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Unexpected Discovery of Hemoglobin D Iran Families in Punjab, Pakistan by using two different Screening Methods

Sikander¹,

Bashir²,

Tariq³

et al. 2021

PJMHS

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Background: Hemoglobin D Iran is frequently misdiagnosed as Hb E or Hb D Punjab if only one method of screening is used. The objective of our study was to highlight the importance of using two different screening techniques in diagnosis of a hemoglobin variant, Hb D Iran in our case. Hematological parameters of heterozygous Hb D Iran and compound heterozygous β/Hb D Iran were also compared. Methods: A descriptive study was carried out on results of 52,379 subjects which were part of thalassemia extended family cascade screening from 36 districts of Punjab from October 2019-March 2021. Cases of Hb D Punjab and Hb E were run on both CE-HPLC (cation exchange-high performance liquid chromatography) and CZE (capillary zone electrophoresis). Resulting Hb D Iran cases were confirmed by ARMS-PCR (Amplification refractory mutation system-polymerase chain reaction). Results: Forty cases of Hb D Iran were detected out of 160 initially suspected Hb D Punjab cases and 126 Hb E cases. Diagnosis was confirmed by molecular analysis. Statistical significance was found between RBC count, MCV, MCH, Hb F and diagnosis of “heterozygous Hb D Iran” and “compound heterozygous for β/ Hb D Iran”. Conclusion: Hb D Iran can be easily missed and misdiagnosed as Hb E or Hb D Punjab, if two screening methods are not used. This maybe a reason why Hb D Iran remains unreported in our region. CBC and HPLC indices can also be suggestive if a case is of heterozygous D Iran or compound heterozygous β/Hb D Iran. Keywords: Hb D Iran, Hb E, Hb D Punjab, Cation exchange High performance liquid chromatography, Capillary zone electrophoresis

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Section: Resultsmentioning

confidence: 82%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

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Unexpected Discovery of Hemoglobin D Iran Families in Punjab, Pakistan by using two different Screening Methods

Sikander¹,

Bashir²,

Tariq³

et al. 2021

PJMHS

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“…For example in the Belgium study, in 1986 it was reported that over the course of 9 years, 19 000 individuals had been screened for haemoglobin abnormalities and only nine unrelated carriers of HbD-Punjab/Los Angeles were discovered; 26 in Turkey, it occurs in 0.2% of the population. 25 Dass et al 30 reported HbD-Iran as a rare variant which was first discovered in a family in central Iran in 1973. 31 This variant arises from a substitution of a glutamic acid for a glutamine at the 22 nd amino acid position in the β globin chain (β22 Glu → Lys).…”

Section: Introductionmentioning

confidence: 99%

Detection and mapping of haemoglobin variants in blood fingermarks by MALDI MS for suspect “profiling”

Heaton

Witt

Cole

et al. 2021

Analyst

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“…19 The frequency of Hb D-Iran was 0.23%, while that of Hb E was 1.56% in a study from India. 28 In Erbil, α-thalassaemia trait (0.032%). 15 In Iran, (0.29%) individuals with alpha thalassaemia variants (Hb-H disease/alpha trait).…”

mentioning

confidence: 99%

Frequency of Haemoglobinopathies in Premarital Screening in Nineveh Province

adnan¹,

Kashmoola²,

Alhatem³

2021

Ann Coll Med Mosul

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Background: Haemoglobinopathy is a large heterogeneous group of genetic abnormalities of haemoglobin. It is one of the most common inherited diseases worldwide. Aim of this study:This study aimed to find the frequency of different types of Haemoglobinopathies in premarital couples in Nineveh province. Subjects and Methods:In this cross-sectional study, the subjects were couples who go to the primary health care centers in Nineveh governorate for routine premarital investigations and the data were collected from the main premarital screening centers in Nineveh governorate. Results: In this study, 1127 cases were included. 613 (54.4 %) were male, their ages range between (13-80 years), and 514 (45.6 %) were female, their ages range between (10-52 years). 47 cases were diagnosed as βeta-thalassaemia carriers with an overall frequency of 4.2 %. Ten cases had haemoglobin S (HbS) by the High Performance Liquid Chromatography (HPLC) (sickle cell trait in 9 cases and sickle β-thalassaemia in only one case); the overall frequency of sickle cell carrier state is 0.89 %. Eight cases with an overall frequency of 0.71 % were diagnosed as having other types of Haemoglobinopathies (haemoglobin D, haemoglobin E, haemoglobin H). Eighty one cases were diagnosed as having iron deficiency with an overall frequency of 7.2 %. By using the Hardy -Weinberg equation; we found the expected number of children born with homozygous βeta-thalassaemia would be (0.3/1000 from those born) and homozygous sickle cell disease would be (0.01/1000 from those born). Conclusions: β-thalassaemia trait represented the most frequent Haemoglobinopathy in the region, Iron deficiency was significantly higher in females than in males, HPLC is a good technique for routine use and the expected number of children born with homozygous β-thalassaemia, sickle cell and others (HbD, HbE, HbH) were (0.3/1000, 0.01/1000 and 0.0085/1000 from those born) respectively.

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Comparison of the characteristics of two hemoglobin variants, Hb D-Iran and Hb E, eluting in the Hb A2 window

Cited by 10 publications

References 13 publications

Unexpected Discovery of Hemoglobin D Iran Families in Punjab, Pakistan by using two different Screening Methods

Unexpected Discovery of Hemoglobin D Iran Families in Punjab, Pakistan by using two different Screening Methods

Detection and mapping of haemoglobin variants in blood fingermarks by MALDI MS for suspect “profiling”

Frequency of Haemoglobinopathies in Premarital Screening in Nineveh Province

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