The effect of hydroxyurea on compound heterozygotes for sickle cell‐hemoglobin D‐Punjab—A single centre experience in eastern India

Patel, Siris; Purohit, Prasanta; Mashon, Ranjeet Singh; Dehury, Snehadhini; Meher, Satyabrata; Sahoo, Sulia; Dash, Subhransu Sekhar; Das, Kunal; Das, Padmalaya; Patel, Dilip Kumar

doi:10.1002/pbc.25004

Cited by 29 publications

(37 citation statements)

References 34 publications

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“…Further clinical studies confirmed the severity of the manifestations of this association and the need to treat these individuals as SCA patients by prescribing hydroxyurea when indicated 21, 26, 27, 28, 29…”

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confidence: 73%

“…Researchers from India and the Middle East are the main authors of the few papers about Hb SD-Punjab; there are less data published about the association Hb S-Hb KB 21, 27, 28, 29, 34, 36, 37, 38, 39, 40, 41. By studying two different groups of patients with Hb SD patterns, specifically Hb SD-Punjab and Hb S-Hb KB, Rezende et al not only published important clinical data about the coinheritance of two rare Hb but also pointed out the importance of this differential diagnosis 15 …”

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confidence: 99%

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Comments on: “Clinical, hematological and genetic data of a cohort of children with hemoglobin SD”

Figueiredo

2016

Revista Brasileira de Hematologia e Hemoterapia

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confidence: 73%

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confidence: 99%

Comments on: “Clinical, hematological and genetic data of a cohort of children with hemoglobin SD”

Figueiredo

2016

Revista Brasileira de Hematologia e Hemoterapia

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“…30 In India, 25 out of 42 patients with HbSD-Punjab, had severe disease as reflected by 3 or more pain crisis per year. 29 Patients with severe disease in this study received hydroxyurea with a favourable outcome.…”

Section: Discussionmentioning

confidence: 99%

“…Despite evidence that HbSD-Punjab disease is clinically as severe as homozygous HbSS disease, this patient had an unremarkable medical history. 28,29 Moreover, he was diagnosed for the first time at the age of 39 upon presenting to our hospital. Among 9 children with HbSDPunjab from the United Arab Emirates, 7 experienced pain crisis, recurrent infections, and splenic sequestration while 2 were asymptomatic apart from anemia.…”

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confidence: 99%

An unusual presentation of hemoglobin SD Punjab in a Saudi Arabian adult

et al. 2017

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HbDPunjab is an uncommon variant hemoglobin that does not result in significant pathology when inherited as a homozygous disorder. When inherited with other hemoglobinopathies, it may result in varying disease phenotypes. HbSDPunjab has been rarely reported in Saudi Arabia, coexisting with alpha or beta thalassemia. In this report, we discuss the case of a 39 years old male who presented with severe anemia and renal injury and was later diagnosed with HbSDPunjab through electropheresis and genetic testing.

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“…The use of hydroxyurea in children with Hb SD disease has been restricted to isolated cases 11, 18, 19…”

Section: Introductionmentioning

confidence: 99%

Clinical, hematological and genetic data of a cohort of children with hemoglobin SD

Rezende

Costa

Domingues

et al. 2016

Revista Brasileira de Hematologia e Hemoterapia

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IntroductionThe hemoglobin FSD is very uncommon in newborn screening programs for sickle cell disease. In the program of Minas Gerais, Brazil, the clinical course of children with hemoglobin SD was observed to be heterogeneous. The objective of this study was to estimate the incidence (1999–2012) and to describe the natural history of a cohort of newborns with hemoglobin SD.MethodsIsoelectric focusing was the primary method used in newborn screening. Polymerase chain reaction-restriction fragment length polymorphism and gene sequencing were used to identify mutant alleles and for haplotyping. Gap-polymerase chain reaction was used to detect alpha-thalassemia.ResultsEleven cases of hemoglobin S/D-Punjab and eight of Hb S-Korle Bu were detected. Other variants with hemoglobin D mobility were not identified. All hemoglobin D-Punjab and hemoglobin Korle Bu alleles were associated with haplotype I. Among the children with hemoglobin S/D-Punjab, there were four with the βS CAR haplotype, six with the Benin haplotype, and one atypical. Results of laboratory tests for hemoglobin S/D-Punjab and hemoglobin S-Korle Bu were: hemoglobin 8.0 and 12.3 g/dL (p-value <0.001), leukocyte count 13.9 × 109/L and 10.5 × 109/L (p-value = 0.003), reticulocytes 7.5% and 1.0% (p-value <0.001), hemoglobin F concentration 16.1% and 6.9% (p-value = 0.001) and oxygen saturation 91.9% and 97% (p-value = 0.002), respectively. Only hemoglobin S/D-Punjab children had acute pain crises and needed blood transfusions or hydroxyurea. Those with the Benin βS haplotype had higher total hemoglobin and hemoglobin F concentrations compared to the CAR haplotype. Transcranial Doppler was normal in all children.ConclusionThe clinical course and blood cell counts of children with hemoglobin S/D-Punjab were very similar to those of hemoglobin SS children. In contrast, children with hemoglobin S-Korle Bu had clinical course and blood cell counts like children with the sickle cell trait.

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The effect of hydroxyurea on compound heterozygotes for sickle cell‐hemoglobin D‐Punjab—A single centre experience in eastern India

Cited by 29 publications

References 34 publications

Comments on: “Clinical, hematological and genetic data of a cohort of children with hemoglobin SD”

Comments on: “Clinical, hematological and genetic data of a cohort of children with hemoglobin SD”

An unusual presentation of hemoglobin SD Punjab in a Saudi Arabian adult

Clinical, hematological and genetic data of a cohort of children with hemoglobin SD

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