Unstable Hemoglobins, Hemoglobins with Altered Oxygen Affinity, Hemoglobin M, and Other Variants of Clinical and Biological Interest

A Coincidental Discovery of a New Stable Variant (Hb Hachioji orHBB: c.187C>T) in a Patient with Chronic Hemolytic Anemia of Unexplained Origin

“…Because the proband is male, we further suspected that he carried an X-linked genetic disorder that was passed to him from his mother. Hemolysis and Heinz bodies may also be seen in G6PD deficiency on exposure to an oxidant [1]. Although G6PD deficiency is relatively rare in the Japanese population (1/1000) [19], a number of cases have been reported [20,21].…”

“…Frequently, abnormal hemoglobin (Hb) arises from a point mutation that substitutes another amino acid residue for the original amino acid, which may affect the structure and function of the Hb molecule [1]. Sixty-nine percent of abnormal Hb in Japanese people exhibits a normal phenotype and no clinical manifestation [2], and many are found on Hb A 1c measurement by high performance liquid chromatography (HPLC) by inappropriately reduced or occasionally increased Hb A 1c levels [1,[3][4][5][6]. Thus, clinically silent Hb variants may remain undetected.…”

A Mother and Newborn with Brown Blood

“…First, the conformational change stabilizes the hemoglobin tetramer in the deoxy state (9 ), thus reducing the oxygen affinity and causing cyanosis. Second, the conformational change renders Hb M-Boston resistant to reduction by methemoglobin reductase (10 ). This causes methemoglobinemia, which both contributes to the cyanosis and accounts for the presence of brown blood.…”

Acute pain in adolescents and young adults with sickle cell disease: Delayed and increased opioid dosing following transition to adult care

“…While from a single center, our data identify significant differences in pain management between pediatric and adult acute care settings, and point to several opportunities to improve the consistency of care of patients with SCD in the AYA period. Successful initiatives to decrease wait times 5 and improve pain score reduction 6 have been published, demonstrating the feasibility of such efforts. Implementation of comprehensive transition programs for adolescents and young adults with SCD should include assessments of local ED and inpatient management practices in order to ensure an optimal transition of care.…”