References
- Williams TN, Weatherall DJ. World distribution, population genetics, and health burden of the hemoglobinopathies. Cold Spring Harb Perspect Med. 2012;2(9):a011692.
- Giardine B, Borg J, Viennas E, et al. Updates of the Hb Vardatabase of human hemoglobin variants and thalassemia mutations. Nucl Acids Res. 2014;42(D1):D1063–D1069.
- Chen W, Zhang X, Shang X, et al. The molecular basis of β-thalassemia intermedia in southern China: genotypic heterogeneity and phenotypic diversity. BMC Med Genet. 2010;11(31).
- Xie XM, Wu MY, Li DZ. Evidence of selection for the α-Globin gene deletions and triplications in a southern Chinese population. Hemoglobin. 2015;39(6):442–444.
- Keeling MM, Ogden LL, Wrightstone RN, et al. Hemoglobin Louisville (β-42 (CD1) phe-leu): an unstable variant causing mild hemolytic anemia. J Clin Invest. 1971;50(11):2395–2402.
- Bratu V, Lorkin PA, Lehmann H, et al. Haemoglobin Buccureşti 42(CD1) Phe-Leu, a cause of unstable haemoglobin haemolytic anaemia. Biochim Biophys Acta. 1971;251(1):1–6.
- Smiley RK, Gravely ME, Wilsorr JB, et al. Hemoglobin Louisville (β 42 (CD1) phenylalanine replaced by leucine) occurring as a fresh mutation in a Canadian woman. Hemoglobin. 1978;2(1):89–90.
- Villegas A, Malcorra JJ, Balda I, et al. A new Spanish family with Hb Louisville. Am J Med Genet. 1989;32(1):9–14.
- Bain BJ. Rare hemoglobinopathy presenting as progressive dyspnea. Am J Hematol. 2012;87(1):132–132.
- von Planta M, Humbert J, Wacker P, et al. Hypothesis for generation of the unstable Hb Bucuresti (β 42 Phe–>Leu) mutation. Hematol J. 2001;2(1):61–66.
- Jung J, Garnett E, Vispo B, et al. Misidentification of unstable, low oxygen affinity hemoglobin variant. Clin Chim Acta. 2020;509:177–179.