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Hematology Volume 27, 2022 - Issue 1
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Case Report

The first Chinese case of unstable Hemoglobin Santa Ana detected by capillary electrophoresis: a case report and literature review

Li Dua Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of China;b Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of China;c Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of ChinaView further author information
,
Danqing Qina Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of China;b Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of China;c Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of ChinaView further author information
,
Jicheng Wanga Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of China;b Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of China;c Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of ChinaView further author information
,
Cuize Yaoa Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of China;b Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of China;c Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of ChinaView further author information
,
Juan Zhua Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of China;b Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of China;c Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of ChinaView further author information
,
Hao Guoa Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of China;b Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of China;c Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of ChinaView further author information
,
Tenglong Yuana Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of China;b Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of China;c Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of ChinaView further author information
,
Jie Lianga Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of China;b Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of China;c Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of ChinaView further author information
&
Aihua Yina Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of China;b Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of China;c Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, People’s Republic of ChinaCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0001-9498-9777View further author information
ORCID Icon show all
Pages 258-262 | Published online: 22 Feb 2022

References

  • Opfell RW, Lorkin PA, Lehmann H. Hereditary non-spherocytic haemolytic anaemia with post-splenectomy inclusion bodies and pigmenturia caused by an unstable haemoglobin Santa Ana-beta-88 (F4) leucine–proline. J Med Genet 1968;5(4):292–297.
  • Gonçalves MS, Sonati MF, Kimura M, et al. Association of Hb santa ANA [α2β288(F4)LEU→PRO] And Hb porto alegre [α2β29(A6)SER→CYS] in a Brazilian female. Hemoglobin. 1994;18(3):235–239.
  • Tanaka Y, Kelleher Jr JF, Schwartz E, et al. Oxygen binding and stability properties of Hb Santa Ana (β88 Leu→Pro). Hemoglobin. 1985;9(2):157–169.
  • Fairbanks VF, Opfell RW, Burgert Jr EO. Three families with unstable hemoglobinopathies (köln. olmsted and Santa Ana) causing hemolytic anemia with inclusion bodies and pigmenturia. Am J Med. 1969;46(3):344–359.
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  • Williamson D. The unstable haemoglobins. Blood Rev 1993;7(3):146–163.
  • Gallagher PG. Diagnosis and management of rare congenital nonimmune hemolytic disease. Hematology. 2015; 2015: 392–399.
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  • Giardine B, Borg J, Viennas E, et al. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res. 2014;42(Database issue):D1063–D1069.
  • Giardine BM, Joly P, Pissard S, et al. Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res 2021;49(D1):D1192–D1196.
  • Galacteros F, Loukopoulos D, Fessas P, et al. Hemoglobin koln occurring in association with a beta zero thalassemia: hematologic and functional consequences. Blood. 1989;74(1):496–500.

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