Identification of high oxygen affinity hemoglobin (Hb Andrew-Minneapolis) in an Indian family (original) (raw)
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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.
Clinical and hematological presentation among Indian patients with common hemoglobin variants
Clinica Chimica Acta, 2014
Co-inheritance of structural hemoglobin variants like HbS, HbD(Punjab) and HbE can lead to a variable clinical presentation and only few cases have been described so far in the Indian population. We present the varied clinical and hematological presentation of 22 cases (HbSD(Punjab) disease-15, HbSE disease-4, HbD(Punjab)E disease-3) referred to us for diagnosis. Two of the 15 HbSD(Punjab) disease patients had moderate crisis, one presented with mild hemolytic anemia; however, the other 12 patients had a severe clinical presentation with frequent blood transfusion requirements, vaso occlusive crisis, avascular necrosis of the femur and febrile illness. The 4 HbSE disease patients had a mild to moderate presentation. Two of the 3 HbD(Punjab)E patients were asymptomatic with one patient's sibling having a mild presentation. The hemoglobin levels of the HbSD(Punjab) disease patients ranged from 2.3 to 8.5 g/dl and MCV from 76.3 to 111.6 fl. The hemoglobin levels of the HbD(Punjab)E and HbSE patients ranged from 10.8 to 11.9 and 9.8 to 10.0 g/dl whereas MCV ranged from 67.1 to 78.2 and 74.5 to 76.0 fl respectively. HbSD(Punjab) disease patients should be identified during newborn screening programmes and managed in a way similar to sickle cell disease. Couple at risk of having HbSD(Punjab) disease children may be given the option of prenatal diagnosis in subsequent pregnancies.
Hemoglobin, 2014
Although d-thalassemia (d-thal) is not categorized as a severe disease, it is essential to know the molecular spectrum of the d gene mutations frequently occurring in specific areas, particularly if these areas are characterized by a high rate of b-thalassemia (b-thal) such as Oman. This is because coinherited d-globin gene defects can interfere with the basic diagnosis of a b-thal carrier when this is based upon the measurement of the Hb A 2 only. Because of that, we have investigated 33 patients with low Hb A 2 levels, collected from different hospitals in Oman. Some cases had a second Hb A 2 fraction, while others had only significantly lower Hb A 2 levels. Among these patients, 20 did carry a d-globin gene mutation, the rest were carriers of a thalassemia (a-thal) defects or could be iron depleted or both. In total, eight different known mutations and two novel d variants were found. The characterization of the d-globin gene mutation spectrum will improve carrier diagnostics and genetic counseling in the Omani population screened for b-thal. Keywords b-Thalassemia (b-thal), d-globin gene mutation, Hb A
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...
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.