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Hemoglobin constant spring

MedGen UID:
855900
•Concept ID:
C3891114
•
Finding
Synonym: HEMOGLOBIN CONSTANT SPRING
 
OMIM®: 141850

Professional guidelines

PubMed

Diagnostic value of fetal hemoglobin Bart's for evaluation of fetal α-thalassemia syndromes: application to prenatal characterization of fetal anemia caused by undiagnosed α-hemoglobinopathy.
Singha K, Yamsri S, Chaibunruang A, Srivorakun H, Sanchaisuriya K, Fucharoen G, Fucharoen S
Orphanet J Rare Dis 2022 Feb 10;17(1):45. doi: 10.1186/s13023-022-02197-w. PMID: 35144630Free PMC Article
Etiology and outcome of non-immune hydrops fetalis in relation to gestational age at diagnosis and intrauterine treatment.
Chainarong N, Muangpaisarn W, Suwanrath C
J Perinatol 2021 Oct;41(10):2544-2548. Epub 2021 Sep 6 doi: 10.1038/s41372-021-01202-7. PMID: 34489542
Prenatal diagnosis and management of homozygous hemoglobin constant spring disease.
Sirilert S, Charoenkwan P, Sirichotiyakul S, Tongprasert F, Srisupundit K, Luewan S, Tongsong T
J Perinatol 2019 Jul;39(7):927-933. Epub 2019 May 16 doi: 10.1038/s41372-019-0397-7. PMID: 31097760

Curated

American College of Medical Genetics Newborn Screening ACT sheet, FA + Barts present (unquantified), FAB, Alpha Thalassemia, 2023

ACMG Algorithm, Hemoglobin FA + Barts: Unquantified Barts Alpha Thalassemia Screening Result (FAB), 2023

ACMG ACT, FA + Low/Moderate Barts Hb, FAB2, FAB1 Alpha Thalassemia: Silent carrier and alpha thalassemia trait, 2023

ACMG Algorithm, Hemoglobin FA + Barts: Low/Moderate Barts Alpha Thalassemia Screening Result (FAB2; FAB1), 2023

ACMG ACT, FA + High Barts Hb (>20-25% Barts) or FAB3), Alpha (a) Thalassemia: Hb H Disease

ACMG Algorithm, Hemoglobin FA + Barts: High Barts Alpha Thalassemia Screening Result (FAB3; FA + Barts > 20-25%), 2023

Recent clinical studies

Etiology

Prenatal diagnosis and management of homozygous hemoglobin constant spring disease.
Sirilert S, Charoenkwan P, Sirichotiyakul S, Tongprasert F, Srisupundit K, Luewan S, Tongsong T
J Perinatol 2019 Jul;39(7):927-933. Epub 2019 May 16 doi: 10.1038/s41372-019-0397-7. PMID: 31097760
Presentation of Compound Heterozygous Hemoglobin Constant Spring and Hemoglobin Pakse in Neonates.
Komvilaisak P, Jetsrisuparb A, Fucharoen G, Komwilaisak R, Jirapradittha J, Kiatchoosakun P
J Pediatr Hematol Oncol 2019 Aug;41(6):e413-e415. doi: 10.1097/MPH.0000000000001406. PMID: 30615015
Clinical Course of Homozygous Hemoglobin Constant Spring in Pediatric Patients.
Komvilaisak P, Jetsrisuparb A, Fucharoen G, Komwilaisak R, Jirapradittha J, Kiatchoosakun P
J Pediatr Hematol Oncol 2018 Jul;40(5):409-412. doi: 10.1097/MPH.0000000000001160. PMID: 29668548
Co-inheritance of α-thalassaemia and β-thalassaemia in a prenatal screening population in mainland China.
Li J, Xie XM, Liao C, Li DZ
J Med Screen 2014 Dec;21(4):167-71. Epub 2014 Aug 12 doi: 10.1177/0969141314548203. PMID: 25118159
Quantification of hemoglobin Constant Spring in heterozygote and homozygote by a capillary electrophoresis method.
Pornprasert S, Panyasai S, Waneesorn J, Kongthai K, Singboottra P
Int J Lab Hematol 2012 Apr;34(2):143-7. Epub 2011 Aug 26 doi: 10.1111/j.1751-553X.2011.01371.x. PMID: 21883970

Diagnosis

Prenatal diagnosis and management of homozygous hemoglobin constant spring disease.
Sirilert S, Charoenkwan P, Sirichotiyakul S, Tongprasert F, Srisupundit K, Luewan S, Tongsong T
J Perinatol 2019 Jul;39(7):927-933. Epub 2019 May 16 doi: 10.1038/s41372-019-0397-7. PMID: 31097760
Detection of the Unstable Hb Köln (HBB: c.295G>A) by a Capillary Electrophoresis Method.
Li YQ, Ye LH, Mo Y
Hemoglobin 2016 Nov;40(6):417-419. doi: 10.1080/03630269.2016.1276930. PMID: 28361589
Detection of the heterozygote of hemoglobin Constant Spring by α-thalassemia immunochromatographic strip test.
Uthaimongkol R, Panyasai S, Pornprasert S
Clin Chem Lab Med 2016 Oct 1;54(10):e305-8. doi: 10.1515/cclm-2016-0304. PMID: 27227710
Hemoglobinopathy or Analytical Interference?
Delacour H, Fontan E, Ceppa F
Clin Chem 2015 Sep;61(9):1214-5. doi: 10.1373/clinchem.2015.241091. PMID: 26319455
Co-inheritance of α-thalassaemia and β-thalassaemia in a prenatal screening population in mainland China.
Li J, Xie XM, Liao C, Li DZ
J Med Screen 2014 Dec;21(4):167-71. Epub 2014 Aug 12 doi: 10.1177/0969141314548203. PMID: 25118159

Therapy

Iron overload in anaemia with underlying haemoglobin constant spring in an antenatal mother in primary care.
Thew HZ, Ng CH, Loo CY
BMJ Case Rep 2024 Feb 17;17(2) doi: 10.1136/bcr-2023-258526. PMID: 38367998Free PMC Article
Iron deficiency anemia interfering the diagnosis of compound heterozygosity for Hb constant spring and Hb Paksé: The first case report.
Chiasakul T, Uaprasert N
J Clin Lab Anal 2018 Jan;32(1) Epub 2017 Feb 28 doi: 10.1002/jcla.22187. PMID: 28244614Free PMC Article
Hb H disease: clinical course and disease modifiers.
Fucharoen S, Viprakasit V
Hematology Am Soc Hematol Educ Program 2009:26-34. doi: 10.1182/asheducation-2009.1.26. PMID: 20008179
Laboratory investigations of Hb Constant Spring.
Tangvarasittichai O, Jeenapongsa R, Sitthiworanan C, Sanguansermsri T
Clin Lab Haematol 2005 Feb;27(1):47-9. doi: 10.1111/j.1365-2257.2004.00658.x. PMID: 15686507
Decreased sensitivity of artesunate and chloroquine of Plasmodium falciparum infecting hemoglobin H and/or hemoglobin constant spring erythrocytes.
Yuthavong Y, Butthep P, Bunyaratvej A, Fucharoen S
J Clin Invest 1989 Feb;83(2):502-5. doi: 10.1172/JCI113910. PMID: 2643631Free PMC Article

Prognosis

Prenatal diagnosis and management of homozygous hemoglobin constant spring disease.
Sirilert S, Charoenkwan P, Sirichotiyakul S, Tongprasert F, Srisupundit K, Luewan S, Tongsong T
J Perinatol 2019 Jul;39(7):927-933. Epub 2019 May 16 doi: 10.1038/s41372-019-0397-7. PMID: 31097760
Presentation of Compound Heterozygous Hemoglobin Constant Spring and Hemoglobin Pakse in Neonates.
Komvilaisak P, Jetsrisuparb A, Fucharoen G, Komwilaisak R, Jirapradittha J, Kiatchoosakun P
J Pediatr Hematol Oncol 2019 Aug;41(6):e413-e415. doi: 10.1097/MPH.0000000000001406. PMID: 30615015
Clinical Course of Homozygous Hemoglobin Constant Spring in Pediatric Patients.
Komvilaisak P, Jetsrisuparb A, Fucharoen G, Komwilaisak R, Jirapradittha J, Kiatchoosakun P
J Pediatr Hematol Oncol 2018 Jul;40(5):409-412. doi: 10.1097/MPH.0000000000001160. PMID: 29668548
Changing patterns of thalassemia worldwide.
Vichinsky EP
Ann N Y Acad Sci 2005;1054:18-24. doi: 10.1196/annals.1345.003. PMID: 16339647
Clinical and hematological features of beta(+)-thalassemia (IVS-1 nt 5, G-C mutation) in Thai patients.
Laosombat V, Wongchanchailert M, Sattayasevana B, Wiriyasateinkul A, Fucharoen S
Eur J Haematol 2001 Aug;67(2):100-4. doi: 10.1034/j.1600-0609.2001.t01-1-00431.x. PMID: 11722597

Clinical prediction guides

Generation of human induced pluripotent stem cell line (MUi034-A) from an unusual case of hydrops fetalis associated with homozygous hemoglobin Constant Spring.
Wongkummool W, Tong-Ngam P, Munkongdee T, Tangprasittipap A, Paiboonsukwong K, Hongeng S, Fucharoen S, Charoenkwan P, Tubsuwan A
Stem Cell Res 2022 Dec;65:102979. Epub 2022 Nov 18 doi: 10.1016/j.scr.2022.102979. PMID: 36427475
Translation readthrough mitigation.
Arribere JA, Cenik ES, Jain N, Hess GT, Lee CH, Bassik MC, Fire AZ
Nature 2016 Jun 30;534(7609):719-23. Epub 2016 Jun 1 doi: 10.1038/nature18308. PMID: 27281202Free PMC Article
Hemoglobin Constant Spring among Southeast Asian Populations: Haplotypic Heterogeneities and Phylogenetic Analysis.
Jomoui W, Fucharoen G, Sanchaisuriya K, Nguyen VH, Fucharoen S
PLoS One 2015;10(12):e0145230. Epub 2015 Dec 18 doi: 10.1371/journal.pone.0145230. PMID: 26683994Free PMC Article
Hemoglobin Pakse: presence on red blood cell membrane and detection by polymerase chain reaction-single-strand conformational polymorphism.
Turbpaiboon C, Siritantikorn A, Thongnoppakhun W, Bunditworapoom D, Limwongse C, Yenchitsomanus PT, Siritanaratkul N, Wilairat P
Int J Hematol 2004 Aug;80(2):136-9. doi: 10.1532/ijh97.a20402. PMID: 15481441
Haemoglobin Constant Spring has an unstable alpha chain messenger RNA.
Hunt DM, Higgs DR, Winichagoon P, Clegg JB, Weatherall DJ
Br J Haematol 1982 Jul;51(3):405-13. doi: 10.1111/j.1365-2141.1982.tb02796.x. PMID: 7104225

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
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      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • ACMG ACT, 2023
      American College of Medical Genetics Newborn Screening ACT sheet, FA + Barts present (unquantified), FAB, Alpha Thalassemia, 2023
    • ACMG Algorithm, 2023
      ACMG Algorithm, Hemoglobin FA + Barts: Unquantified Barts Alpha Thalassemia Screening Result (FAB), 2023
    • ACMG ACT, 2023
      ACMG ACT, FA + Low/Moderate Barts Hb, FAB2, FAB1 Alpha Thalassemia: Silent carrier and alpha thalassemia trait, 2023
    • ACMG Algorithm, 2023
      ACMG Algorithm, Hemoglobin FA + Barts: Low/Moderate Barts Alpha Thalassemia Screening Result (FAB2; FAB1), 2023
    • ACMG ACT, 2023
      ACMG ACT, FA + High Barts Hb (>20-25% Barts) or FAB3), Alpha (a) Thalassemia: Hb H Disease
    • ACMG Algorithm, 2023
      ACMG Algorithm, Hemoglobin FA + Barts: High Barts Alpha Thalassemia Screening Result (FAB3; FA + Barts > 20-25%), 2023

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