Hemoglobin FHouston: A Fetal Variant

A New Variant of Human Fetal Hemoglobin: Hb Froma.

A fetal hemoglobin variant of unusual genetic interest.

T HE HUMAN HEMOGLOBINS consist of two pairs of peptide chains.1’2 Adult hemoglobin ( Hb-A ) has two chains designated a and two chains designated iB; it is thus represented as 2A $2A#{149}Fetal hemoglobin (Hb-F ) has two a chains, which are similar if not identical in structure to those of Hb-A, but a pair of chemically distinct chains, the y chains replacing the $ chains.3’4 Hb-F is thus repre...

A Genetic Variant Ameliorates β-Thalassemia Severity by Epigenetic-Mediated Elevation of Human Fetal Hemoglobin Expression.

A delayed fetal-to-adult hemoglobin (Hb) switch ameliorates the severity of β-thalassemia and sickle cell disease. The molecular mechanism underlying the epigenetic dysregulation of the switch is unclear. To explore the potential cis-variants responsible for the Hb switching, we systematically analyzed an 80-kb region spanning the β-globin cluster using capture-based next-generation sequencing ...

On the chemical abnormality of Hb "Alexandra", a fetal hemoglobin variant.

H UMAN FETAL HEMOGLOBIN consists of two unlike pairs of polypeptide chains, i.e., a2y2. While the detection of an a-chain variant may not present serious difficulties, since the abnormal fetal hemoglobin will be replaced by the adult type, the y-chain variants are transitory and their study is limited by time, shortage of blood and their rarity. Identification of the y-chain anomaly has been po...

Incidental findings of variant hemoglobin during hemoglobin A(1c) testing.

A variant hemoglobin fraction may be an incidental finding during HbA(1c) analysis using the G8 Tosoh HPLC analyzer, but it is unclear if the retention times and fraction patterns can reliably predict the findings of a high-performance liquid chromatography (HPLC) β-thalassemia program (Bio Rad Variant II analyzer). We chose 100 samples sent for HbA(1c) determinations (G8 Tosoh) with an inciden...