First Observation of Hemoglobin Kansas [β102(G4)Asn→Thr, AAC>ACC] in the Turkish Population (original) (raw)
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The Case Report of Hemoglobin Hamadan: HBB:c.169G>C (B 56 (D7) Gly-Arg) in İstanbul
Türkiye Klinikleri Journal of Case Reports, 2023
Private Physician, İstanbul, Türkiye ABS TRACT 27-year-old case with hemoglobin (Hb) Hamadan was presented. During premarital thalassemia screening an unidentified Hb peak; retention time (RT): (5.55 min, 46.2%) was determined with cation-exchange high-performance liquid chromatography (CE-HPLC) at premier resolution (Trinity-Biotech) system. Variant Hb was eluted with Hb A2 (RT): 3.76 min, 45%) at Variant II Turbo (Bio-Rad), while it was 45.7% and detected at S zone at capillary zone electrophoresis system (CZE) Sebia (Lisses, France). She didn't show any clinical symptoms or hematological abnormality. Hemoglobin A1c (HbA1c) results by Boronate affinity, CE-HPLC and CZE methods were 5.7%, 4.7%, and 5.3% respectively. Beta globin gene sequencing revealed a heterozygote codon (c.169G>C (P.Gly57Arg) identical with Hb Hamadan. Hb Hamadan does not cause clinical complaints, but may be important in prenatal examination and cause interference in HbA1c measurements.
Journal of Clinical & Biomedical Research, 2022
Hemoglobinopathies are a major health problem worldwide. These disorders are characterized by a variable clinical and hematological situation related to a phenotypic heterogeneity. Moreover, in order to have an exact correlation between the biochemical picture and the genetic defect associated with it, it is useful and often indispensable the molecular study of alpha and beta globin genes. The present case report concerns a pregnant woman of Moroccan ethnicity who came to our observation to undergo combined first-trimester testing useful for screening of major chromosomal aneuploidies. Study of hemoglobins A, A2, and F by High performance liquid chromatography (HPLC) revealed the presence of a proportion of abnormal hemoglobin associated with hemoglobin S. Molecular investigation of globin genes excluded that the biochemical variant in question was related to hemoglobin S. In fact, molecular investigation of beta globin genes, found that the observed variant was due to the presence of a genetic defect leading to hemoglobin O Arab synthesis. Evidence suggests that molecular analysis of globin genes provides the most effective and correct way to correlate the detected biochemical picture with its associated genetic defect. The only biochemical study in the presented case determines an incorrect clinical evaluation with consequent inaccurate prognosis. The mutation detected in this work can be identified using a simple and inexpensive kit. This would generate, in economic terms, significant savings associated with a correct diagnosis.
The Southeast Asian journal of tropical medicine and public health, 2016
We report, for the first time, hemoglobin (Hb) Lansing-Ramathibodi [α87(F8)His → Gln; CAC>CAG (HBA1: c.264C>G)] in four members of a Thai family presented with low measured oxygen saturation by pulse oximetry (SpO2), with discrepancy between low SpO2 and normal calculated oxygen saturation by arterial blood gas analysis, and no cyanosis or methemoglobinemia. The causative mutation is located in HBA1 whereas in previous reports of Hb Lansing the mutation is on HBA2, including that in a Japanese individual. The index and a male sibling also co-inherited Hb Pakse, a non-deletional α-thalassemia 2, resulting in mild reticulocytosis. Correct Hb identification is crucial for genetic counselling and, thereby, avoiding unnecessary investigation and treatment for spurious hypoxemia.
Hb Narges Lab, a Novel Hemoglobin Variant of the β-Globin Gene
Archives of Iranian Medicine
In this study, we describe a new missense variant on the β-globin gene in a heterozygous form in a female individual. Standard methods were used to determine red blood cell indices and perform hemoglobin analyses. Molecular studies were performed on the genomic DNA isolated from peripheral blood cells. Beta-globin genes were amplified and sequenced. We report a novel mutation on the β-globin gene (HBB), c.134 C>T; p.S44F variant, in the heterozygote state which was detected in a female of Persian ethnic origin in the Khuzestan province, southern Iran, that we named Hb Narges Lab (HbNL) variant. This mutation was predicted to be disease-causing in all except one in silico prediction tools. This variant was reported for the first time worldwide, had no shown hematological abnormalities but should be considered when inherited in the compound heterozygous form with β- thalassemia (β0-thal) carrier, which might result in the phenotype of thalassemia intermedia.
A Case Report on Hbe Homozygous Haemoglobinopathy
2015
Haemoglobin within the red blood cells is vital for existence, being the means of transporting oxygen to tissues. Haemoglobin (Hb) abnormalities are the most frequent genetic disease, affecting approximately 7% of the world population [1].Haemoglobin E is a β chain variant, which is common in south-east Asia[2]. Chernoff and colleagues first described it in 1954 [3]. The prevalence of HbE in India is about 0-3.5% with a increased clustering in Kolkata (22%) and Assam (5080%)[1].
… of Chromatography B: …, 1977
Microchromatographic procedures on columns of DEAE-or CM-cellulose are described for the separation of the more common abnormal hemoglobins S and C from other, often uncommon, variants such as J, N, I, K-Woolwich, Hope, D, E, O, and Deer Lodge. Two ...
Further Studies on Hb Canebière [β12(G4)Asn→His], a Low Affinity Hemoglobin Variant
Hemoglobin, 2010
A case of Hb Canebière [β102(G4)Asn→His] was diagnosed in an otherwise healthy 21-year-old Danish woman. The clinical consequences were minor, since her only symptom consisted of transient cyanosis in lips and fingers when exposed to cold environments. Whole blood p50 was 59.9 mmHg. The Hb Canebière variant could not be separated from Hb A by high performance liquid chromatography (HPLC) and isoelectric focusing (IEF), and it was thus missed by routine hemoglobin (Hb) fractionation techniques.
Blood research, 2017
Cation exchange-high performance liquid chromatography (CE-HPLC) is most commonly used to evaluate hemoglobin (Hb) variants, which elute in the Hb A2 window. This study aimed to assess prevalence of an uncommon Hb variant, Hb D-Iran, and compare its red cell parameters and peak characteristics with those of Hb E that commonly elutes in the Hb A2 window. Generally, we assess abnormal Hb using CE-HPLC as the primary technique along with alkaline and acid electrophoresis. All cases with Hb A2 window >9%, as assessed by CE-HPLCs during 2009-2013, were selected. Twenty-nine cases with Hb D-Iran variant were identified-25 heterozygous, 2 homozygous, 1 compound heterozygous Hb D-Iran/β-thalassemia, and 1 Hb D-Iran/Hb D-Punjab. Overall prevalence of Hb D-Iran was 0.23%. Compared to patients with Hb E, those with Hb D-Iran had significantly higher Hb (12.1 vs. 11.3 g/dL, =0.03), MCV (82.4 vs. 76.4 fL, =0.0044), MCH (27.9 vs. 25.45 pg, P =0.0006), and MCHC (33.9 vs. 33.3 g/dL, =0.0005). Am...
Hemoglobin, 2020
We report the case of a 61-year-old Canadian male of Maltese descent investigated for unexplained polycythemia. Decreased p50 suggested the presence of a high oxygen affinity hemoglobin (Hb) variant. Molecular genetic testing demonstrated that he carries a novel missense mutation (HBB: c.258T>G), resulting in a Phe!Leu substitution at position 85 of the b chain. The novel Hb variant has been designated Hb Kennisis in recognition of where the proband resides. Two other missense mutations have been reported at this position [Hb Bryn Mawr or Hb Buenos Aires, b85(F1)Phe!Ser (HBB: c.257T>C); Hb Grantham, b85(F1)Phe!Cys; (HBB: c.257T>G)], both of which have increased oxygen affinity.