Characterization of HB Volga [B27(B9)ALA→ASP] and HB J-Wenchangwuming [α11(A9)LYS→GLN] in the Population of the United States

Wang, W. C.; Carter, H.; Choitz, H. C.; Hall, R; Hine, T. K.; Jue, Danny L.; Moo-Penn, Winston F.

doi:10.3109/03630269308998886

Cited by 6 publications

(7 citation statements)

References 8 publications

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“…We have since learned that his mother, sister, maternal grandfather, and maternal aunt were all heterozygous for this variant hemoglobin and had hemolytic anemia [6]. The Hb A fraction in these heterozygotes for Hb Volga actually is made up of both genuine Hb A and also Hb Volga (Table I).…”

Section: Discussionmentioning

confidence: 99%

“…It has been found in patients with different ethnic backgrounds [5,6,[19][20][21][22][23]. Heterozygotes have reticulocytosis and abnormal appearing erythrocytes with basophilic stippling.…”

Section: Discussionmentioning

confidence: 99%

“…His mother first presented with hemolytic anemia at the age of 16 months and later developed marked splenomegaly, hepatomegaly, and cholelithiasis at age 14. She, her father, and her half-sister were all found to be carriers of Hb Volga [6]. Both the mother and her half-sister later underwent splenectomy.…”

Section: Patientmentioning

confidence: 99%

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Hemoglobinopathies mimicking Hb S/β‐thalassemia: Hb S/S with α‐thalassemia and Hb S/Volga

et al. 2006

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There are approximately 1200 known natural mutations of the human globin genes. In most clinical laboratories, the diagnosis of hemoglobin disorders is based on blood counts, hemoglobin electrophoresis, or column chromatography, which can identify common variant hemoglobins such as Hb S, C, and E, but are unable to definitively diagnose most other hemoglobin variants and thalassemia mutations. We report two unrelated cases, both thought initially to have Hb S/b-thalassemia. Subsequent mutational analyses revealed that one is Hb S/S with compound heterozygosity for nondeletional a-thalassemia mutations. The other is the first reported case of compound heterozygosity for Hb S and an unstable hemoglobin, Hb Volga. Correct diagnoses of these hereditary disorders are needed for prognosis and proper management and also for genetic counseling. These studies underscore the importance to correlate clinical course with laboratory diagnosis and to make DNA-based diagnostics more widely available for patients with unusual or complicated hemoglobin disorders. Am. J. Hematol. 81:361-365, 2006. V V C 2006 Wiley-Liss, Inc.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Hemoglobinopathies mimicking Hb S/β‐thalassemia: Hb S/S with α‐thalassemia and Hb S/Volga

et al. 2006

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“…Hemoglobin Volga (Hb Volga) is an unstable Hb that is associated with Heinz body formation and increased heat instability in addition to increased basophilic stippling [4][5][6][7][8][9][10]. The presence of Heinz bodies and measurements of stability are especially helpful in the diagnosis because Hb Volga does not display an abnormal pattern in electrophoresis.…”

Section: Introductionmentioning

confidence: 99%

“…Moreover, abundant basophilic stippling in a patient with congenital non-spherocytic hemolytic anemia (CNSHA) generally suggests red-cell pyrimidine 5 0 nucleotidase deficiency [11][12][13]. Among the abnormal hemoglobins, increased basophilic stippling is known to occur in patients with Hb Volga [4][5][6][7][8][9][10].…”

Section: Introductionmentioning

confidence: 99%

Severe hemolytic anemia associated with Hb Volga [β27(B9)Ala→Asp]: GCC→GAC at codon 27 in a Turkish family

et al. 2004

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A boy presented at age 4 years with severe congenital hemolytic anemia characterized by highly elevated reticulocyte count (30-50%) and prominent basophilic stippling. Hb had been 4 g/dL at age 7 months. The patient was on a monthly transfusion regimen up to the age of 7 years, when he underwent splenectomy. After removal of the spleen, his Hb stabilized at 11 g/dL. No abnormal pattern was detected in hemoglobin electrophoresis at pH 9 and 6. In-vitro globin synthesis revealed the presence of an abnormal b-chain in front of the g -chain. The b A /b X ratio was 0.77 at 30 min and 0.74 at 2 hr of incubation. Molecular analysis revealed that the patient had GCC!GAC alteration at codon 27 (b27(B9)AlafiAsp) causing the abnormal hemoglobin Volga. The b-cDNA derived from the b-Hb Volga allele could be differentiated from HbA b-cDNA on silver-stained gel. No imbalance in the mRNA of b A /b Hb Volga ratio was observed. Am.

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The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype–genotype correlation

Luo

Zeng²,

Tang³

et al. 2021

J Hum Genet

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To compare single-molecule real-time technology (SMRT) and conventional genetic diagnostic technology of rare types of thalassemia mutations, and to analyze the molecular characteristics and phenotypes of rare thalassemia gene variants, we used 434 cases with positive hematology screening as the cohort, then used SMRT technology and conventional gene diagnosis technology [(Gap-PCR, multiple ligation probe amplification technology (MLPA), PCR-reverse dot blot (RDB)] for thalassemia gene screening. Among the 434 enrolled cases, conventional technology identified 318 patients with variants (73.27%) and 116 patients without variants (26.73%), SMRT identified 361 patients with variants (83.18%), and 73 patients without variants (16.82%). The positive detection rate of SMRT was 9.91% higher than conventional technology. Combination of the two methods identified 485 positive alleles among 49 types of variant. The genotypes of 354 cases were concordant between the two methods, while 80 cases were discordant. Among the 80 cases, 76 cases had variants only identified in SMRT method, 3 cases had variants only identified in conventional method, and 1 false positive result by the traditional PCR detection technology. Except the three variants in HS40 and HBG1-HBG2 loci, which was beyond the design of SMRT method in this study, all the other discordant variants identified by SMRT were validated by further Sanger sequencing or MLPA. The hematological phenotypic parameters of 80 discordant cases were also analyzed. SMRT technology increased the positive detection rate of thalassemia genes, and detected rare thalassemia cases with variable phenotypes, which had great significance for clinical thalassemia gene screening.

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Characterization of HB Volga [B27(B9)ALA→ASP] and HB J-Wenchangwuming [α11(A9)LYS→GLN] in the Population of the United States

Cited by 6 publications

References 8 publications

Hemoglobinopathies mimicking Hb S/β‐thalassemia: Hb S/S with α‐thalassemia and Hb S/Volga

Hemoglobinopathies mimicking Hb S/β‐thalassemia: Hb S/S with α‐thalassemia and Hb S/Volga

Severe hemolytic anemia associated with Hb Volga [β27(B9)Ala→Asp]: GCC→GAC at codon 27 in a Turkish family

The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype–genotype correlation

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