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X-linked congenital hemolytic anemia(HACXL)

MedGen UID:
1648376
•Concept ID:
C4746970
•
Disease or Syndrome
Synonym: HACXL
 
Gene (location): ATP11C (Xq27.1)
 
Monarch Initiative: MONDO:0060455
OMIM®: 301015

Clinical features

From HPO
Dark urine
MedGen UID:
604849
•Concept ID:
C0426396
•
Finding
An abnormal dark color of the urine.
See: Feature record | Search on this feature
Jaundice
MedGen UID:
43987
•Concept ID:
C0022346
•
Sign or Symptom
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
See: Feature record | Search on this feature
Hemolytic anemia
MedGen UID:
1916
•Concept ID:
C0002878
•
Disease or Syndrome
A type of anemia caused by premature destruction of red blood cells (hemolysis).
See: Feature record | Search on this feature
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Professional guidelines

PubMed

ATR-X syndrome: genetics, clinical spectrum, and management.
León NY, Harley VR
Hum Genet 2021 Dec;140(12):1625-1634. Epub 2021 Sep 15 doi: 10.1007/s00439-021-02361-5. PMID: 34524523
Challenging the dogma of the healthy heterozygote: Implications for newborn screening policies and practices.
Farrell PM, Langfelder-Schwind E, Farrell MH
Mol Genet Metab 2021 Sep-Oct;134(1-2):8-19. Epub 2021 Aug 21 doi: 10.1016/j.ymgme.2021.08.008. PMID: 34483044
Diagnosis and management of G6PD deficiency.
Frank JE
Am Fam Physician 2005 Oct 1;72(7):1277-82. PMID: 16225031

Recent clinical studies

Therapy

Prevalence and molecular analysis of glucose-6-phosphate dehydrogenase deficiency in Chin State, Myanmar.
Aung JM, Moon Z, VanBik D, Dinzouna-Boutamba SD, Lee S, Ring Z, Chung DI, Hong Y, Goo YK
Parasites Hosts Dis 2023 May;61(2):154-162. Epub 2023 May 23 doi: 10.3347/PHD.23004. PMID: 37258262Free PMC Article
Current investigations on clinical pharmacology and therapeutics of Glucose-6-phosphate dehydrogenase deficiency.
Ryan K, Tekwani BL
Pharmacol Ther 2021 Jun;222:107788. Epub 2020 Dec 14 doi: 10.1016/j.pharmthera.2020.107788. PMID: 33326820Free PMC Article
Use of primaquine and glucose-6-phosphate dehydrogenase deficiency testing: Divergent policies and practices in malaria endemic countries.
Recht J, Ashley EA, White NJ
PLoS Negl Trop Dis 2018 Apr;12(4):e0006230. Epub 2018 Apr 19 doi: 10.1371/journal.pntd.0006230. PMID: 29672516Free PMC Article
Review and drug therapy implications of glucose-6-phosphate dehydrogenase deficiency.
Belfield KD, Tichy EM
Am J Health Syst Pharm 2018 Feb 1;75(3):97-104. Epub 2018 Jan 5 doi: 10.2146/ajhp160961. PMID: 29305344
Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease.
De La Fuente R, Baumann C, Viveiros MM
Reproduction 2011 Aug;142(2):221-34. Epub 2011 Jun 8 doi: 10.1530/REP-10-0380. PMID: 21653732Free PMC Article

Prognosis

Incorporating G6PD genotyping to identify patients with G6PD deficiency.
Morris SA, Crews KR, Hayden RT, Takemoto CM, Yang W, Baker DK, Broeckel U, Relling MV, Haidar CE
Pharmacogenet Genomics 2022 Apr 1;32(3):87-93. doi: 10.1097/FPC.0000000000000456. PMID: 34693927Free PMC Article
Non-functional pancreatic neuroendocrine tumours: ATRX/DAXX and alternative lengthening of telomeres (ALT) are prognostically independent from ARX/PDX1 expression and tumour size.
Hackeng WM, Brosens LAA, Kim JY, O'Sullivan R, Sung YN, Liu TC, Cao D, Heayn M, Brosnan-Cashman J, An S, Morsink FHM, Heidsma CM, Valk GD, Vriens MR, Nieveen van Dijkum E, Offerhaus GJA, Dreijerink KMA, Zeh H, Zureikat AH, Hogg M, Lee K, Geller D, Marsh JW, Paniccia A, Ongchin M, Pingpank JF, Bahary N, Aijazi M, Brand R, Chennat J, Das R, Fasanella KE, Khalid A, McGrath K, Sarkaria S, Singh H, Slivka A, Nalesnik M, Han X, Nikiforova MN, Lawlor RT, Mafficini A, Rusev B, Corbo V, Luchini C, Bersani S, Pea A, Cingarlini S, Landoni L, Salvia R, Milione M, Milella M, Scarpa A, Hong SM, Heaphy CM, Singhi AD
Gut 2022 May;71(5):961-973. Epub 2021 Apr 13 doi: 10.1136/gutjnl-2020-322595. PMID: 33849943Free PMC Article
Evaluation of a flow cytometric test for G6PD-deficient erythrocytes.
Kapadia AB, Sharma P, Jain K, Sachdeva MUS, Bose PL, Gupta M, Khadwal AR, Bal A, Das R, Varma N
Trop Med Int Health 2021 Apr;26(4):462-468. Epub 2021 Feb 2 doi: 10.1111/tmi.13547. PMID: 33415798
Use of primaquine and glucose-6-phosphate dehydrogenase deficiency testing: Divergent policies and practices in malaria endemic countries.
Recht J, Ashley EA, White NJ
PLoS Negl Trop Dis 2018 Apr;12(4):e0006230. Epub 2018 Apr 19 doi: 10.1371/journal.pntd.0006230. PMID: 29672516Free PMC Article
Alpha thalassaemia-mental retardation, X linked.
Gibbons R
Orphanet J Rare Dis 2006 May 4;1:15. doi: 10.1186/1750-1172-1-15. PMID: 16722615Free PMC Article

Clinical prediction guides

Glucose-6-phosphate dehydrogenase deficiency and long-term risk of immune-related disorders.
Israel A, Schäffer AA, Berkovitch M, Ozeri DJ, Merzon E, Green I, Golan-Cohen A, Ruppin E, Vinker S, Magen E
Front Immunol 2023;14:1232560. Epub 2023 Sep 11 doi: 10.3389/fimmu.2023.1232560. PMID: 37753082Free PMC Article
Concurrence of glucose-6-phosphate dehydrogenase deficiency in pregnancy.
Sarkar A, Rohilla M, Kumari S
J Obstet Gynaecol 2022 Jul;42(5):747-750. Epub 2022 Jan 24 doi: 10.1080/01443615.2021.2024157. PMID: 35068323
Incorporating G6PD genotyping to identify patients with G6PD deficiency.
Morris SA, Crews KR, Hayden RT, Takemoto CM, Yang W, Baker DK, Broeckel U, Relling MV, Haidar CE
Pharmacogenet Genomics 2022 Apr 1;32(3):87-93. doi: 10.1097/FPC.0000000000000456. PMID: 34693927Free PMC Article
Alpha thalassaemia-mental retardation, X linked.
Gibbons R
Orphanet J Rare Dis 2006 May 4;1:15. doi: 10.1186/1750-1172-1-15. PMID: 16722615Free PMC Article
Alpha-thalassaemia.
Bernini LF, Harteveld CL
Baillieres Clin Haematol 1998 Mar;11(1):53-90. doi: 10.1016/s0950-3536(98)80070-x. PMID: 10872473

Recent systematic reviews

ATR-X syndrome: genetics, clinical spectrum, and management.
León NY, Harley VR
Hum Genet 2021 Dec;140(12):1625-1634. Epub 2021 Sep 15 doi: 10.1007/s00439-021-02361-5. PMID: 34524523
Association of glucose-6-phosphate dehydrogenase deficiency and malaria: a systematic review and meta-analysis.
Mbanefo EC, Ahmed AM, Titouna A, Elmaraezy A, Trang NT, Phuoc Long N, Hoang Anh N, Diem Nghi T, The Hung B, Van Hieu M, Ky Anh N, Huy NT, Hirayama K
Sci Rep 2017 Apr 6;7:45963. doi: 10.1038/srep45963. PMID: 28382932Free PMC Article

Supplemental Content

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
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      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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