Does Elevated Hemoglobin F Modulate the Phenotype in Hb SD-Los Angeles?

Adekile, Adekunle; Mullah-Ali, Ali; Akar, Najwa Ali

doi:10.1159/000276998

Cited by 19 publications

(15 citation statements)

References 38 publications

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“…Two cases of mild HbSD had HbF levels of 7.5 and 11.7 %. Similar findings have been reported in the Kuwaiti population [11]. The different HbD variants produce different severity of disease with HbS.…”

Section: Hbd Traitsupporting

confidence: 87%

Hb D: A Not So Rare Hemoglobinopathy

Devi

Rameshkumar

Sitalakshmi

2014

Indian J Hematol Blood Transfus

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Dear Editor, Hb D is a b chain haemoglobin variant. It was first described by Itano in 1951 [1]. It differs in structure from Hb A at 121 position on b chain where glutamine replaces glutamic acid [2]. Hb D is known variously as Hb D Punjab, Hb D Los Angeles. It is the fourth most frequently occurring Hb variant [3].Hb D Punjab occurs with greatest prevalence (2 %) in Sikhs of Punjab and in Gujarat (1 %). It is also found sporadically in blacks and Europeans, the latter usually seen in countries that have close association with India in the past [3].HbD heterozygotes are clinically normal and homozygotes have a clinically mild phenotype. Hb D attains clinical significance in association with either b thalassemia or HbS.We describe 12 patients, 9 from South Indian population (three cases of Hb D trait and six cases of Hb SD) and 3 from West Bengal (one case homozygous HbDD, one case of HbD b thalassemia and one case of HbD trait).Blood samples collected in EDTA were subjected to complete blood counts, reticulocyte count and red cell indices on the Sysmex XT 1800i/XT 2000i/XT 4000i. Peripheral blood smears were prepared stained with Leishman's stain and examined. Sickling test was done where indicated by using 1 % sodium metabisulphite. G6PD screening was done using dye reduction test. The HPLC was done on BioRAD Variant II. The clinical data was retrieved from the medical records department.HPLC was done on 1,460 cases over a period of 2 years from September 2009 to February 2012. Five hundred and eighty-nine cases of haemoglobinopathies were detected. b Thalassemia trait was most common with 373 cases (63 %) being detected. b Thalassemia major was seen in 36 cases (6.1 %) and b thalassemia intermedia in 13 cases (2.2 %). Sickle cell disease was the next common with 28 cases of Sickle cell trait (4.7 %), 25 cases of sickle cell anemia (4.2 %) and 18 cases of sickle b thalassemia (3 %). HbE was seen significantly in the migrant population from Bengal with 24 cases of HbEE disease (4 %), 27 cases of HbE trait (4.5 %) and 14 cases of HbE b thalassemia (2.3 %). Twelve cases (2.0 %) showing Hb D were detected of which six cases were double heterozygous HbSD, one case of homozygous HbDD, one case of HbD b thalassemia and four cases of HbD trait. Eleven cases (1.8 %) of hereditary persistence of foetal haemoglobin (HPFH), four cases (0.6 %) of HPFH trait and four cases (0.6 %) of a thalassemia were also seen.

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Section: Hbd Traitsupporting

confidence: 87%

Hb D: A Not So Rare Hemoglobinopathy

Devi

Rameshkumar

Sitalakshmi

2014

Indian J Hematol Blood Transfus

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“…3,7,8 A Hb D interage com a Hb S favorecendo a polimerização durante a desoxigenação e produzindo uma anemia hemolítica com características clínicas semelhantes a anemia falciforme de intensidade moderada. [9][10][11][12][13] O sangue periférico mostra um quadro de anemia normocítica e normocrômica, com anisocitose, policromatofilia e pecilocitose, com codócitos e raros drepanócitos. 13,14,15 O aumento da hemoglobina fetal observado no presente estudo, pode ocorrer de modo geral, com valores inferiores a 8%, mas já foram descritos valores >25%.…”

Section: Resultadounclassified

“…13,14,15 O aumento da hemoglobina fetal observado no presente estudo, pode ocorrer de modo geral, com valores inferiores a 8%, mas já foram descritos valores >25%. 9,16 Em pacientes falciformes (Hb SS), é comum a presença de Hb F elevada. A Hb F não polimeriza com Hb S, o que representa um caráter protetor ao vasos sanguíneos quanto maior sua concentração, e consequentemente, menor as chances de lesões vasculares.…”

Section: Resultadounclassified

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Hemoglobinopathy SD presenting as Hemoglobinopathy SS

Lissa¹,

Bach²,

Spezia³

et al. 2017

Medicina (Ribeirão Preto)

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RESUMOEste relato de caso mostra a interação da hemoglobina (Hb) S com a Hb D de uma criança que foi previamente diagnosticada como anemia falciforme (Hb SS) devido ao seu padrão de migração da eletroforese em pH alcalino. O fenômeno de falcização foi confirmado com 2% de metabissulfito de ABSTRACTThis case report shows the interaction of hemoglobin (Hb) S with Hb D. in a child previously diagnosed with sickle cell anemia based on the Hb electrophoretic migration pattern in alkaline pH. The sickling phenomenon was confirmed with 2% sodium metabisulfite. The father and mother of the child had a heterozygous pattern (Hb AS) in hemoglobin electrophoresis at alkaline pH. The sickling phenomenon has been confirmed to the father, but it has not been confirmed for the mother. The electrophoresis at acid pH was used to differentiate Hb S from Hb D. The family's phenotype was established: the father has Hb AS, the mother AD and, the child SD. The purpose of this study was to emphasize the importance of confirmation of Hb S detected in electrophoresis at alkaline pH, with the solubility test or 2% sodium metabisulfite and with the electrophoresis at acid pH.

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“…This suggests that the sickling process is likely the result of the interaction between the intracellular Hb S and Hb D variants. This interaction may be strengthened or weakened, depending on the Hb variant co-inherited with the β S mutation 6, 7, 8, 9, 10, 11, 12, 13, 14. Children with Hb S/D-Punjab disease seem to present a clinical course similar to those with homozygous Hb SS disease 8, 10, 11, 15, 16…”

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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Does Elevated Hemoglobin F Modulate the Phenotype in Hb SD-Los Angeles?

Cited by 19 publications

References 38 publications

Hb D: A Not So Rare Hemoglobinopathy

Hb D: A Not So Rare Hemoglobinopathy

Hemoglobinopathy SD presenting as Hemoglobinopathy SS

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

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