Ann Lab Med.  2017 Jul;37(4):352-354. 10.3343/alm.2017.37.4.352.

Hemoglobin Kansas: First Korean Family and Literature Review

• Jo I
• Jang W
• Chae H
• Kim SY
• Kim M
• Kim Y
• Han K

• KMID: 2376797
• DOI: http://doi.org/10.3343/alm.2017.37.4.352

Abstract

No abstract available.

MeSH Terms

Humans
Kansas*

Figure

• 

  Fig. 1 (A) Pedigree of a family with low oxygen saturation. Black symbols indicate clinically affected family members and white symbols indicate unaffected family members. The black arrowhead indicates the proband with the HBB variant. (B) Sequencing chromatogram of the proband demonstrating the HBB c.308A>C (p.Asn103Thr) variant (NM_000518.4 version of the HBB reference sequence).

Reference

1. Reissmann KR, Ruth WE, Nomura T. A human hemoglobin with lowered oxygen affinity and impaired heme-heme interactions. J Clin Invest. 1961; 40:1826–1833. PMID: 14491349.

2. Lee NY, Cho HI, Kim SI, Kim BK, Ohba Y, Hattori Y. A Family Case of β-Thalassemia Minor and Hemoglobin Queens: α34 (B15) Leu-Arg. J Korean Med Sci. 1992; 7:385–388. PMID: 1299245.

3. Chang YH, Hur M, Lee DS, Park SS, Kim BK, Park S, et al. The first case of Hb Koln [beta98(FG5)Val-->Met] in Korea. Hemoglobin. 1999; 23:287–289. PMID: 10490143.

4. Kim JY, Park SS, Jung HL, Keum DH, Park H, Chang YH, et al. Hb Madrid [beta115(G17)Ala-->Pro] in a Korean family with chronic hemolytic anemia. Hemoglobin. 2000; 24:133–138. PMID: 10870884.

5. Kim JY, Park SS, Yang SH, Joo SI, Lee YJ, Ra EK, et al. A Korean family with a dominantly inherited beta-thalassemia due to Hb Durham-N.C./Brescia. Hemoglobin. 2001; 25:79–89. PMID: 11300352.

6. Lee ST, Kim MS, Choi DY, Kim SK, Ki CS. Incidence of Variant Hemoglobin (Hb) and Increased Fetal Hb Concentrations and Their Effect on Hb A1c Measurement in a Korean Population. Clin Chem. 2006; 52:1445–1446. PMID: 16798979.

7. Kim SY, Kim GY, Jo SA, Lee EH, Cho EH, Hwang SH, et al. A novel hemoglobin variant beta135(H13) Ala > Asp identified in an asymptomatic Korean family by direct sequencing: suggesting a new insight into Hb Beckman mutation. Int J Lab Hematol. 2010; 32:e175–e178. PMID: 19453576.

8. Jung CL, Kwon KJ, Hong KS, Sung YA, Lee ST, Ki CS, et al. Hemoglobin Yamagata: hemoglobin variant detected by HbA1c test. Korean J Lab Med. 2009; 29:536–540. PMID: 20046085.

9. Kim SY, Lee SH, Cho SI, Song SH, Hattori Y, Park SK, et al. Molecular identification of the novel Ggamma-beta hybrid hemoglobin: Hb Ggamma-beta Ulsan (Ggamma through 13; beta from 19). Blood Cells Mol Dis. 2010; 45:276–279. PMID: 21035360.

10. Park S, Park JE, Cho SI, Jeon Y, Park SS, Seong MW. The first study on nucleotide-level identification of Hb Koriyama in a patient with severe hemolytic anemia. Ann Lab Med. 2012; 32:99–101. PMID: 22259788.

11. Shin SY, Bang SM, Kim HJ. A Novel Hemoglobin Variant Associated with Congenital Erythrocytosis: Hb Seoul [l [iyama in a patient with severe hemolytic anemia. Ann Oratory Sci. 2016; 46:312–314.

12. Bonaventura J, Riggs A. Hemoglobin Kansas, a human hemoglobin with a neutral amino acid substitution and an abnormal oxygen equilibrium. J Biol Chem. 1968; 243:980–991. PMID: 5640981.

13. Morita K, Fukuzawa J, Onodera S, Kawamura Y, Sasaki N, Fujisawa K, et al. Hemoglobin Kansas found in a patient with polycythemia. Ann Hematol. 1992; 65:229–231. PMID: 1457581.

14. Ishiguro K, Ohba Y, Hattori Y, Miyaji T, Oshida Y, Tachinami T, et al. Hemoglobin Kansas in a Japanese family. Hemoglobin. 1983; 7:573–579. PMID: 6668189.