Compound heterozygote of Hb DIran [HBB: c.67G&gt;C, β 22(B4) Glu&gt;Gln] with β0-thalassemia [cds 41/42 (-CTTT)] from Eastern India

Mohanty, P.; Meher, Satyabrata; Dehury, Snehadhini; Bhattacharya, Sameek; Das, Kunal; Patel, Siris; Sarkar, Biswanath

doi:10.1016/j.bjhh.2017.09.001

Cited by 4 publications

(4 citation statements)

References 11 publications

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“…"(Table 1) Hb D Iran is a structural hemoglobin variant resulting from the substitution of glutamate with glutamine at codon 22 of the beta globin gene. This hemoglobin beta chain variant was first discovered 1973 by Rahber in a family in central Iran 6 . Hb D-Iran has high prevalence in Iran.…”

Section: Resultsmentioning

confidence: 96%

“…Hb D Iran is heat stable and does not affect oxygen equilibrium, intracellular 2,3 -DPG or the Bohr affect. Due to same migration pattern, Hb D Iran it can be misdiagnosed as Hb S [6]. This can result in unnecessary invasive investigation like CVS for PND if spouse is also wrongly labelled as carrier of Hb S. Additional investigations like a sickling test and CE-HPLC need to be performed.…”

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: 96%

Section: Resultsmentioning

confidence: 99%

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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“…Kiểu gen dị hợp tử kép HbD-Iran và β 0 -Thalassemia không những hiếm gặp ở Việt Nam mà trên thế giới, số báo cáo cũng rất ít. Y văn ghi nhận một số báo cáo ca bệnh dị hợp tử kép HbD-Iran kết hợp với một số dạng biến thể β 0 -Thalassemia như mất đoạn 619bp, CD41/42, biến thể β + -Thalassemia như IVSI.5, hoặc kết hợp với các kiểu hemoglobin khác như HbD Punjab , HbS 6,7 . Đây cũng là ca bệnh đầu tiên tại Việt Nam cũng như trên thế giới báo cáo kiểu gen dị hợp tử kép HbD-Iran và CD17.…”

Section: Ca Lâm Sàngunclassified

Báo Cáo Hai Trường Hợp Hiếm Gặp Mang Dị Hợp Tử Kép Hb D-Iran Phối Hợp Beta Thalassemia Đầu Tiên Tại Việt Nam

Nguyễn,

Nguyễn

et al. 2023

VMJ

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Bài báo báo cáo đặc điểm lâm sàng và sinh học phân tử của hai ca bệnh mang phối hợp Hb D – Iran và β0 thalassemia (CD17) lần đầu tiên được phát hiện ở Việt Nam. Về lâm sàng, hai bệnh nhân đều có thiếu máu nhược sắc hồng cầu nhỏ. Đặc điểm của các kiểu hemoglobin được phân tích bằng phương pháp sắc ký lỏng hiệu năng cao và được xác định kiểu gen bằng phương pháp PCR và giải trình tự gen beta globin. Hai bệnh nhân được xác định đểu mang dị hợp tử kép HbD-Iran phối hợp CD17. Mẹ của hai bệnh nhân mang dị hợp tử đơn HbD-Iran.

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“…The Hb D Iran trait and homozygous cases have been already reported in the literature [4,5]. However, few studies have reported compound heterozygotes of Hb D Iran with other Hb variants [6].…”

Section: Introductionmentioning

confidence: 99%

Haemoglobin D Iran With Beta Thalassemia in A Primigravida With Anaemia

Ali¹

2019

WJGWH

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Compound heterozygote of Hb DIran [HBB: c.67G>C, β 22(B4) Glu>Gln] with β0-thalassemia [cds 41/42 (-CTTT)] from Eastern India

Cited by 4 publications

References 11 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

Báo Cáo Hai Trường Hợp Hiếm Gặp Mang Dị Hợp Tử Kép Hb D-Iran Phối Hợp Beta Thalassemia Đầu Tiên Tại Việt Nam

Haemoglobin D Iran With Beta Thalassemia in A Primigravida With Anaemia

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