Add to ORKGA new unstable hemoglobin (Hb) variant, named Hb Aalesund, was detected during Hb A1c measurement in a patient with a nearly compensated hemolytic anemia. Sequencing of the α-globin genes revealed a 7 bp deletion in exon 3 of the HBA2 gene (HBA2: c.400_406delAGCACCG) (NM_000517.4) causing a frameshift and a premature termination codon (PTC) two positions downstream. Apparently, the transcript bypassed nonsense-mediated decay (NMD), and a truncated protein was translated. The unstable Hb variant presumably underwent rapid denaturation, as heterozygosity of Hb Aalesund was associated with mild hemolytic anemia. In addition, the Hb variant interfered with Hb A1c measurement by cation exchange high performance liquid chromatography (HPLC), caus...
Hemoglobin A1c (HbA1c) is used routinely to monitor long-term glycemic control in people with diabet...
An elevated HbA<sub>2</sub> (α2δ2) level (>3.5%) is a well-established diagnostic test...
International audienceWe report three cases with very heterogeneous Hb A(2) levels caused by known c...
A new unstable hemoglobin (Hb) variant, named Hb Aalesund, was detected during Hb A1c measurement in...
Hemoglobinopathies are a group of inherited hemoglobin (Hb) disorders including thalassemia (reduced...
Hemoglobinopathies, the disorders of hemoglobin structure and synthesis, can be divided into two for...
International audienceHb Dompierre [β29(B11)Gly→Arg, HBB: c.88G>C] is a rare β-globin gene variant t...
Aims: To suggest the possible unreliability of HbA 1c determination in presence of haemoglobin varia...
We describe two unrelated patients, both heterozygous for an unstable hemoglobin (Hb) variant named ...
Abstract Hemoglobin (Hb) variants may be associated with low oxygen saturation and exacerbated episo...
We describe here two new unstable β-globin variants, Hb Caruaru and Hb Olinda, found in northeastern...
Hb variants are structurally abnormal haemoglobins which can originate a wide range of phenotypes fr...
A 42-year-old Chinese woman (FP) was the mother of a patient with β-thalassemia major (β-TM) due to ...
Three independent cases of chronic haemolytic anaemia in Sweden have recently been demonstrated to b...
α-thalassemia is one of the most common monogenic diseases worldwide and is caused by reduced or abs...
Hemoglobin A1c (HbA1c) is used routinely to monitor long-term glycemic control in people with diabet...
An elevated HbA<sub>2</sub> (α2δ2) level (>3.5%) is a well-established diagnostic test...
International audienceWe report three cases with very heterogeneous Hb A(2) levels caused by known c...
A new unstable hemoglobin (Hb) variant, named Hb Aalesund, was detected during Hb A1c measurement in...
Hemoglobinopathies are a group of inherited hemoglobin (Hb) disorders including thalassemia (reduced...
Hemoglobinopathies, the disorders of hemoglobin structure and synthesis, can be divided into two for...
International audienceHb Dompierre [β29(B11)Gly→Arg, HBB: c.88G>C] is a rare β-globin gene variant t...
Aims: To suggest the possible unreliability of HbA 1c determination in presence of haemoglobin varia...
We describe two unrelated patients, both heterozygous for an unstable hemoglobin (Hb) variant named ...
Abstract Hemoglobin (Hb) variants may be associated with low oxygen saturation and exacerbated episo...
We describe here two new unstable β-globin variants, Hb Caruaru and Hb Olinda, found in northeastern...
Hb variants are structurally abnormal haemoglobins which can originate a wide range of phenotypes fr...
A 42-year-old Chinese woman (FP) was the mother of a patient with β-thalassemia major (β-TM) due to ...
Three independent cases of chronic haemolytic anaemia in Sweden have recently been demonstrated to b...
α-thalassemia is one of the most common monogenic diseases worldwide and is caused by reduced or abs...
Hemoglobin A1c (HbA1c) is used routinely to monitor long-term glycemic control in people with diabet...
An elevated HbA<sub>2</sub> (α2δ2) level (>3.5%) is a well-established diagnostic test...
International audienceWe report three cases with very heterogeneous Hb A(2) levels caused by known c...