nach oben

Indian Journal of Hematology and Blood Transfusion

Erschienen in:

21.03.2015 | Case Report

Hemoglobin Constant Spring (Hb CS) Missed by HPLC in an Hb E Trait Pregnancy Resulting in Hb H-CS Disease in a Thai Girl: Utility of Capillary Electrophoresis

verfasst von: Sakorn Pornprasert, Supansa Saoboontan, Thanatcha Wiengkum

Erschienen in: Indian Journal of Hematology and Blood Transfusion | Sonderheft 1/2016

Einloggen, um Zugang zu erhalten

Abstract

Hemoglobin Constant Spring [Hb CS; α142, Term→Gln (TAA>CAA IN α2)] is often missed by routine laboratory testing, especially in subjects with co-inheritance of β-thalassemia or β-variants. We reported the case of a 1-year-old female with Hb H-CS disease who was born from a father with heterozygous of α-thalassemia-1 Southeast Asian type deletion and a mother with the combination of Hb CS and Hb E [β26 (B8) Glu→Lys, GAG>AAG] trait. A very tiny peak of Hb CS of the mother was easily ignored on the high performance liquid chromatography chromatogram while it was clearly seen on the capillary electrophoresis (CE) electrophoregram. Therefore, the CE is useful in screening for heterozygous Hb CS in a person with Hb E trait. This is of potential benefit for prevention of new cases of Hb H-CS disease.

Fucharoen S, Winichagoon P (1987) Hemoglobinopathies in southeast Asia. Hemoglobin 11(1):65–88CrossRefPubMed

Laig M, Pape M, Hundrieser J et al (1990) The distribution of the Hb constant spring gene in Southeast Asian populations. Hum Genet 84(2):188–190CrossRefPubMed

Fucharoen S, Winichagoon P, Pootrakul P, Piankijagum A, Wasi P (1987) Differences between two types of Hb H disease, alpha-thalassemia 1/alpha-thalassemia 2 and alpha-thalassemia 1/Hb constant spring. Birth Defects Orig Artic Ser 23(5A):309–315PubMed

Tan JA, Kok JL, Tan KL, Wee YC, George E (2009) Thalassemia intermedia in HbH-CS disease with compound heterozygosity for beta-thalassemia: challenges in hemoglobin analysis and clinical diagnosis. Genes Genet Syst 84(1):67–71CrossRefPubMed

Tangvarasittichai O, Jeenapongsa R, Sitthiworanan C, Sanguansermsri T (2005) Laboratory investigations of Hb constant spring. Clin Lab Haematol 27(1):47–49CrossRefPubMed

Hunt DM, Higgs DR, Winichagoon P, Clegg JB, Weatherall DJ (1982) Haemoglobin constant spring has an unstable alpha chain messenger RNA. Br J Haematol 51(3):405–413CrossRefPubMed

Ne W, Harano K, Harano T et al (2008) Hb Constant Spring [alpha 142, Term–>Gln (TAA>CAA in alpha2)] in the alpha-thalassemia of anemic patients in Myanmar. Hemoglobin 32(5):454–461CrossRef

Singsanan S, Fucharoen G, Savongsy O, Sanchaisuriya K, Fucharoen S (2007) Molecular characterization and origins of Hb constant spring and Hb Pakse in Southeast Asian populations. Ann Hematol 86(9):665–669CrossRefPubMed

Liao C, Zhou JY, Xie XM, Li J, Li R, Li DZ (2010) Detection of Hb constant spring by a capillary electrophoresis method. Hemoglobin 34(2):175–178CrossRefPubMed

10.

Panyasai S, Sukunthamala K, Pornprasert S (2010) Molecular confirmatory testing of hemoglobin Constant Spring by real-time polymerase chain reaction SYBR Green1 with high-resolution melting analysis. Eur J Haematol 84(6):550–552CrossRefPubMed

11.

Li YQ, Li R, Li DZ (2013) Detection of Hb Constant Spring [alpha142, Term–>Gln, TAA>CAA (alpha2)] in heterozygotes combined with beta-thalassemia. Hemoglobin 37(2):197–200CrossRefPubMed

12.

Pornprasert S, Phusua A, Suanta S, Saetung R, Sanguansermsri T (2008) Detection of alpha-thalassemia-1 Southeast Asian type using real-time gap-PCR with SYBR Green1 and high resolution melting analysis. Eur J Haematol 80(6):510–514CrossRefPubMed

13.

Pornprasert S, Punyamung M, Treesuwan K (2013) Criteria for detection of alpha-thalassemia-1 Thai type deletion in routine laboratory. Clin Lab 59(11–12):1423–1427PubMed

14.

Pornprasert S, Panyasai S, Waneesorn J, Kongthai K, Singboottra P (2012) Quantification of hemoglobin constant spring in heterozygote and homozygote by a capillary electrophoresis method. Int J Lab Hematol 34(2):143–147CrossRefPubMed

15.

Liao C, Zhou JY, Xie XM, Li DZ (2011) Screening for Hb constant spring in the Guangdong Province, South China, using the Sebia capillary electrophoresis system. Hemoglobin 35(1):87–90CrossRefPubMed

16.

Waneesorn J, Panyasai S, Kongthai K, Singboottra P, Pornprasert S (2011) Comparison between capillary electrophoresis and high performance liquid chromatography for detection and quantification of Hb constant spring [Hb CS; alpha142, Term–>Gln (TAA>CAA IN alpha2)]. Hemoglobin 35(4):338–345CrossRefPubMed

Titel: Hemoglobin Constant Spring (Hb CS) Missed by HPLC in an Hb E Trait Pregnancy Resulting in Hb H-CS Disease in a Thai Girl: Utility of Capillary Electrophoresis
verfasst von: Sakorn Pornprasert
Supansa Saoboontan
Thanatcha Wiengkum
Publikationsdatum: 21.03.2015
Verlag: Springer India
Erschienen in: Indian Journal of Hematology and Blood Transfusion / Ausgabe Sonderheft 1/2016
Print ISSN: 0971-4502
Elektronische ISSN: 0974-0449
DOI: https://doi.org/10.1007/s12288-015-0532-3

Springer Medizin

Hemoglobin Constant Spring (Hb CS) Missed by HPLC in an Hb E Trait Pregnancy Resulting in Hb H-CS Disease in a Thai Girl: Utility of Capillary Electrophoresis

Abstract

Neu im Fachgebiet Onkologie

Erhöhte Mortalität bei postpartalem Brustkrebs

Hypertherme Chemotherapie bietet Chance auf Blasenerhalt

Ein Drittel der jungen Ärztinnen und Ärzte erwägt abzuwandern

Bessere Prognose mit links- statt rechtsseitigem Kolon-Ca.

Update Onkologie

Springer Medizin

Abstract

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Sonderheft 1/2016

Occurrence of Double Monoclonal Bands on Protein Electrophoresis: An Unusual Finding

Delayed Serological Transfusion Reaction After Platelet Transfusion Due to Anti-e

A Novel Mutation of Ribosomal Protein S19 Gene in a Chinese Child with Diamond-Blackfan Anemia

Fungal Mycotic Aneurysm in a Case of Acute Lymphoblastic Leukemia

Bilateral Tonsillar Enlargement as a First Manifestation of Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma with an Unusual Interfollicular Pattern of Infiltration

A Novel A1088T Mutation in the Glucose-6-Phosphate Dehydrogenase Gene Detected by RT-PCR Combined with DNA Sequencing

Neu im Fachgebiet Onkologie

Erhöhte Mortalität bei postpartalem Brustkrebs

Hypertherme Chemotherapie bietet Chance auf Blasenerhalt

Ein Drittel der jungen Ärztinnen und Ärzte erwägt abzuwandern

Bessere Prognose mit links- statt rechtsseitigem Kolon-Ca.

Update Onkologie