Ann Lab Med.  2024 Jan;44(1):97-99. 10.3343/alm.2024.44.1.97.

The First Korean Hemoglobinopathy With Unique Hemoglobin Electrophoresis Results Diagnosed as Hemoglobin Boras

• Bae J
• Ahn WK
• Jang J
• Jang H
• Kang H
• Rim JH
• Hahn SM
• Han JW
• Lyu CJ
• Lim JB

• KMID: 2550228
• DOI: http://doi.org/10.3343/alm.2024.44.1.97

Figure

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  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.

Reference

1. Williamson D. 1993; The unstable haemoglobins. Blood Rev. 7:146–63. DOI: 10.1016/0268-960X(93)90002-L. PMID: 8241830.

2. Giardine B, Borg J, Viennas E, Pavlidis C, Moradkhani K, Joly P, et al. 2014; Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res. 42:D1063–9. DOI: 10.1093/nar/gkt911. PMID: 24137000. PMCID: PMC3964999.

3. Hollender A, Lorkin P, Lehmann H, Svensson B. 1969; New unstable haemoglobin Borås: β88 (F4) leucine→ arginine. Nature. 222:953–5. DOI: 10.1038/222953a0. PMID: 5789325.

4. Bird A, Elliot T, Wilson J, Webber B, Kutlar F, Kutlar A, et al. 1987; Hb Borås or α2β288 (F4) Leu→ Arg in a South African Female. Hemoglobin. 11:157–60. DOI: 10.3109/03630268709005791. PMID: 3623976.

5. Martinez Villegas O, Mendoza-Meléndez D, Trueba-Gómez R, Rosenfeld-Mann F, Baptista-González HA, Estrada-Juárez H. 2021; Analysis of a Novel Mexican Variant of the HBB Gene Associated with β-Thalassemia Using Bioinformatic Tools. Hemoglobin. 45:87–93. DOI: 10.1080/03630269.2021.1920976. PMID: 34060411.

6. Janus J, Moerschel SK. 2010; Evaluation of anemia in children. Am Fam Physician. 81:1462–71.

7. Medri C, Mendez A, Hammerer-Lercher A, Rovo A, Angelillo-Scherrer A. 2022; Unstable hemoglobin Montreal II uncovered in an adult with unexplained hemolysis exacerbated by a presumed viral infection: a case report. J Med Case Rep. 16:145. DOI: 10.1186/s13256-022-03374-y. PMID: 35397565. PMCID: PMC8994883.

8. Yates AM, Mortier NA, Hyde KS, Hankins JS, Ware RE. 2010; The diagnostic dilemma of congenital unstable hemoglobinopathies. Pediatr Blood Cancer. 55:1393–5. DOI: 10.1002/pbc.22702. PMID: 20730880. PMCID: PMC4347403.