Fig. 1. Clinical phenotype, pedigree and laboratory findings in the present case of Hb Boras. (A) Upper abdomen ultrasonography of the index patient shows splenomegaly (12.4 cm). (B) The family history of the patient: There was no history of anemia or jaundice except for that observed in his father. The patient and his father had a c.266T>G (p.Leu89Arg) mutation in the HBB gene, and his younger brother had the wild type. His maternal grandfather died from malignant lymphoma. (C) Laboratory values at the first referral (current result) and past evaluation at another hospital one-year ago (previous result) of the index case. (D) Peripheral blood smear of the index patient shows spherocytes (black arrow) and bite cells (white arrow) (Wright-Giemsa stain, ×1000). (E) Hb electrophoresis of the index patient shows multiple irregular peaks. (F) HBB missense variant c.266T>G (p.Leu89Arg) identified in the index patient.
Abbreviations: ALP, alkaline phosphatase; LD, lactate dehydrogenase; MCH, mean corpuscular hemoglobin; MCHC, mean corpuscular hemoglobin concentration; MCV, mean corpuscular volume; RBC, red blood cell; RDW, red blood cell distribution width; TIBC, total iron-binding capacity; WBC, white blood cell.

Ann Lab Med 2024;44:97~99 https://doi.org/10.3343/alm.2024.44.1.97