A novel double heterozygous Hb Fontainebleau/HbD Punjab hemoglobinopathy

2015 ◽  
Vol 48 (13-14) ◽  
pp. 904-907 ◽  
Author(s):  
Karina Rodríguez-Capote ◽  
Mathew P. Estey ◽  
Vilte Barakauskas ◽  
Pierre Bordeleau ◽  
Cathie-Lou Christensen ◽  
...  
Keyword(s):  
Hbd Punjab

scholarly journals Functional Prediction from Conformational Dynamics of Glycated and Glutathionylated HbE and HbD Punjab

2020 ◽  
Vol 118 (5) ◽  
pp. 722
Author(s):  
Sreekala Narayanan ◽  
Boby Mathew ◽  
Bindu Y. Srinivasu ◽  
Monita Muralidharan ◽  
Vijay Bhat ◽  
...  
Keyword(s):  
Conformational Dynamics ◽  
Functional Prediction ◽  
Hbd Punjab

scholarly journals Voxelotor Treatment Interferes With Quantitative and Qualitative Hemoglobin Variant Analysis in Multiple Sickle Cell Disease Genotypes

2020 ◽  
Vol 154 (5) ◽  
pp. 627-634
Author(s):  
Nicola J Rutherford-Parker ◽  
Sean T Campbell ◽  
Jennifer M Colby ◽  
Zahra Shajani-Yi
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
High Performance ◽  
Clinical Laboratory ◽  
The United States ◽  
Cell Disease ◽  
Hemoglobin Variant ◽  
Hbd Punjab ◽  
The Impact

Abstract Objectives Voxelotor was recently approved for use in the United States as a treatment for sickle cell disease (SCD) and has been shown to interfere with the quantitation of hemoglobin (Hb) S percentage. This study aimed to determine the effect of voxelotor on the quantitation of hemoglobin variant levels in patients with multiple SCD genotypes. Methods In vitro experiments were performed to assess the impact of voxelotor treatment on hemoglobin variant testing. Whole blood samples were incubated with voxelotor and then analyzed by routinely used quantitative and qualitative clinical laboratory methods (high-performance liquid chromatography [HPLC], capillary zone electrophoresis [CZE], and acid and alkaline electrophoresis). Results Voxelotor modified the α-globin chain of multiple hemoglobins, including HbA, HbS, HbC, HbD-Punjab, HbE, HbA2, and HbF. These voxelotor-hemoglobin complexes prevented accurate quantitation of multiple hemoglobin species, including HbS, by HPLC and CZE. Conclusions Technical limitations in quantifying HbS percentage may preclude the use of HPLC or CZE for monitoring patients treated with voxelotor. Furthermore, it is unclear whether HbS-voxelotor complexes are clinically equivalent to HbS. Consensus guidelines for reporting hemoglobin variant percentages for patients taking voxelotor are needed, as these values are necessary for determining the number of RBC units to exchange in acute situations.

scholarly journals Globin chain synthesis in HbD (Punjab)-beta-thalassemia

Blood ◽  
1976 ◽  
Vol 47 (1) ◽  
pp. 113-120 ◽  
Author(s):  
RF Rieder
Keyword(s):  
Bone Marrow ◽  
Peripheral Blood ◽  
Beta Thalassemia ◽  
Globin Chain ◽  
Globin Chains ◽  
Mild Anemia ◽  
Thalassemia Trait ◽  
Chain Synthesis ◽  
Hbd Punjab ◽  
Globin Chain Synthesis

Abstract A 23-yr-old man of Greek-Italian ancestry with mild anemia was found to be heterozygous for HbD (Punjab) beta121 glu leads to gin and beta- thalassemia. HbA was not detected upon electrophoresis of the subject's hemolysate, and no synthesis of betaA globin was demonstrated after incubation of peripheral blood or bone marrow with 3H-leucine. The thalassemia gene was thus of the betao variety. The betaD/alpha synthesis ratios were almost equally unbalanced in the blood and bone marrow: 0.53 and 0.61, respectively. The mother of the propositus had beta-thalassemia trait. In peripheral blood the betaA/alpha synthesis ratio was 0.38. The mutant betaD gene thus appeared potentially capable of directing the synthesis of globin chains as efficiently as a normal betaA gene. The mildness of the HbD-betao-thalassemia syndrome appeared to be due to the maintenance of a relatively high total beta/alpha synthesis ratio in the presence of a physiologically neutral structural mutation.

scholarly journals Double heterozygous HbQ India/HbD Punjab hemoglobinopathy: A rare case report

2015 ◽  
Vol 4 (4) ◽  
pp. 266 ◽  
Author(s):  
SujaniC Madabhushi ◽  
UmaSwarup Nugoori ◽  
KiranKumar Doppalapudi ◽  
Mukesh Agrawal
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Rare Case Report ◽  
Hbq India ◽  
Hbd Punjab

scholarly journals Coexistence of rare variant HbD Punjab [α2β2121(Glu→Gln)] and alpha 3.7 kb deletion in a young boy of Hindu family in West Bengal, India

2015 ◽  
Vol 20 (5) ◽  
Author(s):  
Arijit Ghosh ◽  
Jayasri Basak ◽  
Ashis Mukhopadhyay
Keyword(s):  
Hematological Parameters ◽  
Globin Gene ◽  
Globin Genes ◽  
Heterozygous State ◽  
Chromosome 16 ◽  
Homozygous State ◽  
Globin Chains ◽  
Alpha Thalassemia ◽  
Clinically Significant ◽  
Hbd Punjab

AbstractHbD Punjab is a variant of hemoglobin which occurs as a result of mutation in codon 121 (GAA>CAA) of the β-globin gene, which replaces glutamic acid with glutamine (Glu→Gln). The heterozygous state of HbD does not produce any clinical or hematological symptoms, although its association with HbS and thalassemia produces clinically significant but less severe conditions. The homozygous state produces mild hemolytic anemia and mild to moderate splenomegaly. Alpha-thalassemia is characterized by reduction or absence of the α-globin chains due to deletional or non-deletional mutations of α-globin genes located on chromosome 16. The present study describes a Hindu family where both HbD Punjab and alpha 3.7 kb deletion are present among the members in the heterozygous and double heterozygous state. Comparison of clinical and hematological parameters between the heterozygous and double heterozygous state of HbD and the alpha 3.7 kb deletion is also discussed here. According to our study, the prevalence rate of HbD Punjab is very low, i.e. 0.06%.

scholarly journals Interaction of - α 3.7, ß Thalassemia Mutation IVS 1-5 and HbD Punjab in a Family: A Case Report

2012 ◽  
Vol 27 (3) ◽  
pp. 314-317 ◽  
Author(s):  
S. Pandey ◽  
Ravi Ranjan ◽  
R. M. Mishra ◽  
Sw. Pandey ◽  
R. Saxena
Keyword(s):  
Case Report ◽  
Hbd Punjab ◽  
Thalassemia Mutation

scholarly journals Globin chain synthesis in HbD (Punjab)-beta-thalassemia

Blood ◽  
1976 ◽  
Vol 47 (1) ◽  
pp. 113-120
Author(s):  
RF Rieder
Keyword(s):  
Bone Marrow ◽  
Peripheral Blood ◽  
Beta Thalassemia ◽  
Globin Chain ◽  
Globin Chains ◽  
Mild Anemia ◽  
Thalassemia Trait ◽  
Chain Synthesis ◽  
Hbd Punjab ◽  
Globin Chain Synthesis

A 23-yr-old man of Greek-Italian ancestry with mild anemia was found to be heterozygous for HbD (Punjab) beta121 glu leads to gin and beta- thalassemia. HbA was not detected upon electrophoresis of the subject's hemolysate, and no synthesis of betaA globin was demonstrated after incubation of peripheral blood or bone marrow with 3H-leucine. The thalassemia gene was thus of the betao variety. The betaD/alpha synthesis ratios were almost equally unbalanced in the blood and bone marrow: 0.53 and 0.61, respectively. The mother of the propositus had beta-thalassemia trait. In peripheral blood the betaA/alpha synthesis ratio was 0.38. The mutant betaD gene thus appeared potentially capable of directing the synthesis of globin chains as efficiently as a normal betaA gene. The mildness of the HbD-betao-thalassemia syndrome appeared to be due to the maintenance of a relatively high total beta/alpha synthesis ratio in the presence of a physiologically neutral structural mutation.

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