U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hemoglobin H disease, nondeletional

MedGen UID:
481191
•Concept ID:
C3279561
•
Disease or Syndrome
Synonym: Hemoglobin Pakse
 
OMIM®: 141800; 141850; 613978

Professional guidelines

PubMed

Weighing the evidence for newborn screening for Hemoglobin H disease.
Kemper AR, Knapp AA, Metterville DR, Comeau AM, Green NS, Perrin JM
J Pediatr 2011 May;158(5):780-3. Epub 2010 Dec 16 doi: 10.1016/j.jpeds.2010.10.042. PMID: 21167500

Recent clinical studies

Therapy

Use of HSC-targeted LNP to generate a mouse model of lethal α-thalassemia and treatment via lentiviral gene therapy.
Chappell ME, Breda L, Tricoli L, Guerra A, Jarocha D, Castruccio Castracani C, Papp TE, Tanaka N, Hamilton N, Triebwasser MP, Ghiaccio V, Fedorky MT, Gollomp KL, Bochenek V, Roche AM, Everett JK, Cook EJ, Bushman FD, Teawtrakul N, Glentis S, Kattamis A, Mui BL, Tam YK, Weissman D, Abdulmalik O, Parhiz H, Rivella S
Blood 2024 Oct 10;144(15):1633-1645. doi: 10.1182/blood.2023023349. PMID: 38949981
One-step genotyping of α-thalassaemia by multiplex symmetric PCR melting curve.
Qin J, He J, Li Y, Liu N, Tao F, Zhang P, Guo W, Qin Q, Zhou W
J Clin Pathol 2023 Sep;76(9):632-636. Epub 2022 Jun 14 doi: 10.1136/jclinpath-2022-208363. PMID: 35701141
Increased endothelial activation in α-thalassemia disease.
Sirivadhanakul P, Chuansumrit A, Songdej D, Kadegasem P, Wongwerawattanakoon P, Sirachainan N
Ann Hematol 2019 Jul;98(7):1593-1602. Epub 2019 Apr 5 doi: 10.1007/s00277-019-03672-4. PMID: 30953084
Frequencies and phenotypic consequences of association of α- and β-thalassemia alleles with sickle-cell disease in Bahrain.
Abuamer S, Shome DK, Jaradat A, Radhi A, Bapat JP, Sharif KA, Al-Touq J, Al-Asheeri A, Al-Ajami A
Int J Lab Hematol 2017 Feb;39(1):76-83. Epub 2016 Dec 16 doi: 10.1111/ijlh.12577. PMID: 27981798
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

Prognosis

Hydrops Fetalis Associated with Fetal Hemoglobin H-Pakse Disease.
Luewan S, Sirichotiyakul S, Charoenkwan P, Phirom K, Tongsong T
Fetal Diagn Ther 2022;49(11-12):528-535. Epub 2022 Dec 27 doi: 10.1159/000528510. PMID: 36574766
Clinical features and molecular analysis of Hb H disease in Taiwan.
Chao YH, Wu KH, Wu HP, Liu SC, Peng CT, Lee MS
Biomed Res Int 2014;2014:271070. Epub 2014 Aug 28 doi: 10.1155/2014/271070. PMID: 25309906Free PMC Article
Clinical manifestations of α-thalassemia.
Vichinsky EP
Cold Spring Harb Perspect Med 2013 May 1;3(5):a011742. doi: 10.1101/cshperspect.a011742. PMID: 23543077Free PMC Article
Weighing the evidence for newborn screening for Hemoglobin H disease.
Kemper AR, Knapp AA, Metterville DR, Comeau AM, Green NS, Perrin JM
J Pediatr 2011 May;158(5):780-3. Epub 2010 Dec 16 doi: 10.1016/j.jpeds.2010.10.042. PMID: 21167500
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

Clinical prediction guides

Severity scoring system to guide transfusion management in pediatric non-deletional HbH.
Songdej D, Tandhansakul M, Wongwerawattanakoon P, Sirachainan N, Charoenkwan P, Chuansumrit A
Pediatr Int 2023 Jan-Dec;65(1):e15568. doi: 10.1111/ped.15568. PMID: 37475523
Bone Mineral Density and Dickkopf-1 in Adolescents with Non-Deletional Hemoglobin H Disease.
Wiromrat P, Rattanathongkom A, Laoaroon N, Suwannaying K, Komwilaisak P, Panamonta O, Wongsurawat N, Nasomyont N
J Clin Densitom 2023 Jul-Sep;26(3):101379. Epub 2023 Apr 26 doi: 10.1016/j.jocd.2023.101379. PMID: 37147222
Genotype-phenotype correlation in patients with deletional and nondeletional mutations of Hb H disease in Southwest of Iran.
Hamid M, Keikhaei B, Galehdari H, Saberi A, Sedaghat A, Shariati G, Mohammadi-Anaei M
Sci Rep 2022 Mar 22;12(1):4856. doi: 10.1038/s41598-022-08986-4. PMID: 35319015Free PMC Article
Liver complications of haemoglobin H disease in adults.
Chan LKL, Mak VWM, Chan SCH, Yu ELM, Chan NCN, Leung KFS, Ng CKM, Ng MHL, Chan JCW, Lee HKK
Br J Haematol 2021 Jan;192(1):171-178. Epub 2020 Oct 23 doi: 10.1111/bjh.17115. PMID: 33095929
Clinical features and molecular analysis of Hb H disease in Taiwan.
Chao YH, Wu KH, Wu HP, Liu SC, Peng CT, Lee MS
Biomed Res Int 2014;2014:271070. Epub 2014 Aug 28 doi: 10.1155/2014/271070. PMID: 25309906Free PMC Article

Recent systematic reviews

Weighing the evidence for newborn screening for Hemoglobin H disease.
Kemper AR, Knapp AA, Metterville DR, Comeau AM, Green NS, Perrin JM
J Pediatr 2011 May;158(5):780-3. Epub 2010 Dec 16 doi: 10.1016/j.jpeds.2010.10.042. PMID: 21167500

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

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

    Consumer resources

    Reviews

    Related information

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...