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Hemoglobin constant spring

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

Professional guidelines

PubMed

Direct PCR assays without DNA extraction for rapid detection of hemoglobin Constant Spring and Pakse' genes: application for carrier screening and prenatal diagnosis.
Wichian P, Yamsri S, Chaibunruang A, KerdKaew C, Thongsee D, Srivorakun H, Fucharoen S
Scand J Clin Lab Invest 2021 Nov;81(7):557-563. Epub 2021 Sep 15 doi: 10.1080/00365513.2021.1972332. PMID: 34524047
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
Hemoglobin Constant Spring is markedly high in women of an ethnic minority group in Vietnam: a community-based survey and hematologic features.
Nguyen VH, Sanchaisuriya K, Wongprachum K, Nguyen MD, Phan TT, Vo VT, Sanchaisuriya P, Fucharoen S, Schelp FP
Blood Cells Mol Dis 2014 Apr;52(4):161-5. Epub 2013 Dec 22 doi: 10.1016/j.bcmd.2013.12.002. PMID: 24368026
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
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
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
Changing patterns of thalassemia worldwide.
Vichinsky EP
Ann N Y Acad Sci 2005;1054:18-24. doi: 10.1196/annals.1345.003. PMID: 16339647

Therapy

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
Hemophagocytic lymphohistiocytosis following dengue hemorrhagic fever in Hb H/Hb Constant Spring patient.
Phuakpet K, Sanpakit K, Vathana N, Takpradit C, Chokephaibulkit K, Viprakasit V
Pediatr Int 2015 Aug;57(4):763-5. Epub 2015 May 22 doi: 10.1111/ped.12617. PMID: 26011764
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
Alpha thalassemia major--new mutations, intrauterine management, and outcomes.
Vichinsky EP
Hematology Am Soc Hematol Educ Program 2009:35-41. doi: 10.1182/asheducation-2009.1.35. PMID: 20008180
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 prediction guides

Direct PCR assays without DNA extraction for rapid detection of hemoglobin Constant Spring and Pakse' genes: application for carrier screening and prenatal diagnosis.
Wichian P, Yamsri S, Chaibunruang A, KerdKaew C, Thongsee D, Srivorakun H, Fucharoen S
Scand J Clin Lab Invest 2021 Nov;81(7):557-563. Epub 2021 Sep 15 doi: 10.1080/00365513.2021.1972332. PMID: 34524047
Haemoglobin Constant Spring (HbA2: c.427T>C) and Haemoglobin Adana (HbA2: c.179G>A) in jaundiced Malaysian term neonates with clinically significant hyperbilirubinemia.
Shwe S, Boo NY, Ong HK, Chee SC, Maslina M, Ling MMM, Ahluwalia AK
Malays J Pathol 2020 Aug;42(2):253-257. PMID: 32860378
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
Proteomic analysis of hemoglobin H-constant spring (Hb H-CS) erythroblasts.
Sriiam S, Leecharoenkiat A, Lithanatudom P, Wannatung T, Svasti S, Fucharoen S, Svasti J, Chokchaichamnankit D, Srisomsap C, Smith DR
Blood Cells Mol Dis 2012 Feb 15;48(2):77-85. Epub 2011 Dec 7 doi: 10.1016/j.bcmd.2011.11.004. PMID: 22154201

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
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    • Bookshelf
      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

    Consumer resources

    Reviews

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