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Congenital hematological disorder

MedGen UID:: 760584
•Concept ID:: C3267032
•: Disease or Syndrome

Synonyms:	congenital haematological system disease; Congenital Hematological Disorder; congenital hematological disorder; congenital hematological system disease

Monarch Initiative:	MONDO:0009332

Definition

A disorder of the blood that is present at birth. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCongenital hematological disorder

Pathological process
- Disease
  - Disorder by Site
    - Hematopoietic and Lymphoid System Disorder
      - Hematologic disorder
        Non-Neoplastic Hematologic and Lymphocytic Disorder
        Congenital hematological disorder
        Beta-thalassemia-X-linked thrombocytopenia syndrome
        Congenital Abnormalities of Erythrocyte Differentiation or Function
        Congenital Amegakaryocytosis
        Congenital anemia
        Congenital dyserythropoietic anemia
        Congenital dyserythropoietic anemia type 4
        Congenital dyserythropoietic anemia, type I
        Congenital dyserythropoietic anemia, type II
        Congenital dyserythropoietic anemia, type III
        Thrombocytopenia with congenital dyserythropoietic anemia
        Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
        X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
        Familial hemolytic anemia
        Anemia due to membrane defect
        Congenital nonspherocytic hemolytic anemia
        G6PD deficiency
        Hb SS disease
        Hemoglobin C disease
        Hereditary elliptocytosis
        Hereditary spherocytosis
        Thalassemia
        Triosephosphate isomerase deficiency
        Hereditary sideroblastic anemia
        Autosomal recessive sideroblastic anemia
        Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
        Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
        Myopathy, lactic acidosis, and sideroblastic anemia
        Pearson syndrome
        Severe congenital hypochromic anemia with ringed sideroblasts
        Sideroblastic anemia 3
        X-linked sideroblastic anemia 1
        X-linked sideroblastic anemia with ataxia
        Congenital Bleeding Disorder
        Congenital neutropenia
        Severe congenital neutropenia
        Autosomal dominant severe congenital neutropenia
        Autosomal recessive severe congenital neutropenia
        Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
        Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
        Congenital neutropenia-myelofibrosis-nephromegaly syndrome
        Kostmann syndrome
        Neutropenia, severe congenital, 1, autosomal dominant
        Neutropenia, severe congenital, 2, autosomal dominant
        X-linked severe congenital neutropenia
        Congenital Platelets Abnormality
        Diamond-Blackfan anemia
        Diamond-Blackfan anemia 1
        Diamond-Blackfan anemia 2
        Diamond-Blackfan anemia 3
        Diamond-Blackfan anemia 4
        Diamond-Blackfan anemia 5
        Diamond-Blackfan anemia 6
        Diamond-Blackfan anemia 7
        Diamond-Blackfan anemia 8
        Diamond-Blackfan anemia 9
        Diamond-Blackfan anemia 10
        Diamond-Blackfan anemia 11
        Diamond-Blackfan anemia 12
        Diamond-Blackfan anemia 13
        Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
        Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
        Diamond-Blackfan anemia 16
        Diamond-Blackfan anemia 17
        Diamond-Blackfan anemia 18
        Diamond-Blackfan anemia 19
        Diamond-Blackfan anemia 20
        Genetic anomaly of leukocyte
        Hemoglobinopathy
        Hemoglobin D disease
        Hemoglobin E disease
        Hemoglobin Trait
        Alpha Thalassemia Silent Carrier
        Alpha trait thalassemia
        Sickle cell trait
        Sickle cell-beta-thalassemia
        Sickle cell-hemoglobin C disease
        Sickle cell-hemoglobin D disease
        Sickle cell-hemoglobin E disease syndrome
        Sickle cell-Hemoglobin O Arab disease
        Sickle cell-thalassemia disease
        Sickle Beta 0 Thalassemia
        Sickle Beta Plus Thalassemia
        Vaso-Occlusive Crisis
        Vaso-Occlusive Crisis in Sickle Cell-Hemoglobin C Disease
        Vaso-Occlusive Crisis in Sickle Cell-SS Disease
        Hereditary coagulation factor deficiency
        Congenital factor V deficiency
        Congenital factor VII deficiency
        Congenital prothrombin deficiency
        Hereditary factor I deficiency disease
        Afibrinogenemia
        Congenital afibrinogenemia
        Dysfibrinogenemia
        Familial hypodysfibrinogenemia
        Hereditary Factor III Deficiency
        Hereditary factor IX deficiency disease
        Hemophilia B Brandenburg
        Hemophilia B leyden
        Hemophilia b(m)
        Mild hemophilia B
        Moderately severe hemophilia B
        Severe hemophilia B
        Symptomatic form of hemophilia B in female carriers
        Hereditary factor VIII deficiency disease
        Hemophilia A with vascular abnormality
        Mild hemophilia A
        Moderately severe hemophilia A
        Severe hemophilia A
        Symptomatic form of hemophilia A in female carriers
        Hereditary factor X deficiency disease
        Hereditary factor XI deficiency disease
        Hereditary factor XII deficiency disease
        Hereditary factor XIII deficiency disease
        Hereditary methemoglobinemia
        Deficiency of cytochrome-b5 reductase
        Methemoglobin reductase deficiency
        Methemoglobinemia type 4
        High molecular weight kininogen deficiency
        Thrombocytopenia 1

Professional guidelines

PubMed

Treatment of haemophilia: From replacement to gene therapy.

Páramo JA
Med Clin (Barc) 2021 Dec 24;157(12):583-587. Epub 2021 Sep 9 doi: 10.1016/j.medcli.2021.04.031. PMID: 34509300

Management of antithrombin deficiency: an update for clinicians.

Bravo-Pérez C, Vicente V, Corral J
Expert Rev Hematol 2019 Jun;12(6):397-405. Epub 2019 May 22 doi: 10.1080/17474086.2019.1611424. PMID: 31116611

Non-cirrhotic portal hypertension - diagnosis and management.

Khanna R, Sarin SK
J Hepatol 2014 Feb;60(2):421-41. Epub 2013 Aug 23 doi: 10.1016/j.jhep.2013.08.013. PMID: 23978714

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Recent clinical studies

Etiology

The hemoglobinopathies, molecular disease mechanisms and diagnostics.

Harteveld CL, Achour A, Arkesteijn SJG, Ter Huurne J, Verschuren M, Bhagwandien-Bisoen S, Schaap R, Vijfhuizen L, El Idrissi H, Koopmann TT
Int J Lab Hematol 2022 Sep;44 Suppl 1(Suppl 1):28-36. doi: 10.1111/ijlh.13885. PMID: 36074711 Free PMC Article

Severe congenital neutropenias.

Skokowa J, Dale DC, Touw IP, Zeidler C, Welte K
Nat Rev Dis Primers 2017 Jun 8;3:17032. doi: 10.1038/nrdp.2017.32. PMID: 28593997 Free PMC Article

How I manage children with neutropenia.

Dale DC
Br J Haematol 2017 Aug;178(3):351-363. Epub 2017 Apr 17 doi: 10.1111/bjh.14677. PMID: 28419427

The direct antiglobulin test: a critical step in the evaluation of hemolysis.

Zantek ND, Koepsell SA, Tharp DR Jr, Cohn CS
Am J Hematol 2012 Jul;87(7):707-9. Epub 2012 May 6 doi: 10.1002/ajh.23218. PMID: 22566278

Neutropenia: etiology and pathogenesis.

Schwartzberg LS
Clin Cornerstone 2006;8 Suppl 5:S5-11. doi: 10.1016/s1098-3597(06)80053-0. PMID: 17379162

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Diagnosis

Congenital neutropenia and primary immunodeficiency diseases.

Spoor J, Farajifard H, Rezaei N
Crit Rev Oncol Hematol 2019 Jan;133:149-162. Epub 2018 Oct 13 doi: 10.1016/j.critrevonc.2018.10.003. PMID: 30661651

Congenital disorders of bone and blood.

Teti A, Teitelbaum SL
Bone 2019 Feb;119:71-81. Epub 2018 Mar 6 doi: 10.1016/j.bone.2018.03.002. PMID: 29522883

Congenital Hemolytic Anemia.

Haley K
Med Clin North Am 2017 Mar;101(2):361-374. Epub 2016 Dec 8 doi: 10.1016/j.mcna.2016.09.008. PMID: 28189176

Congenital amegakaryocytic thrombocytopenia.

Geddis AE
Pediatr Blood Cancer 2011 Aug;57(2):199-203. Epub 2011 Feb 18 doi: 10.1002/pbc.22927. PMID: 21337678

Congenital macrothrombocytopenias.

Kunishima S, Saito H
Blood Rev 2006 Mar;20(2):111-21. Epub 2005 Sep 19 doi: 10.1016/j.blre.2005.08.001. PMID: 16169642

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Therapy

Red Blood Cell Transfusion: 2023 AABB International Guidelines.

Carson JL, Stanworth SJ, Guyatt G, Valentine S, Dennis J, Bakhtary S, Cohn CS, Dubon A, Grossman BJ, Gupta GK, Hess AS, Jacobson JL, Kaplan LJ, Lin Y, Metcalf RA, Murphy CH, Pavenski K, Prochaska MT, Raval JS, Salazar E, Saifee NH, Tobian AAR, So-Osman C, Waters J, Wood EM, Zantek ND, Pagano MB
JAMA 2023 Nov 21;330(19):1892-1902. doi: 10.1001/jama.2023.12914. PMID: 37824153

Management of pyruvate kinase deficiency in children and adults.

Grace RF, Barcellini W
Blood 2020 Sep 10;136(11):1241-1249. doi: 10.1182/blood.2019000945. PMID: 32702739

Severe congenital neutropenias.

Skokowa J, Dale DC, Touw IP, Zeidler C, Welte K
Nat Rev Dis Primers 2017 Jun 8;3:17032. doi: 10.1038/nrdp.2017.32. PMID: 28593997 Free PMC Article

How I manage children with neutropenia.

Dale DC
Br J Haematol 2017 Aug;178(3):351-363. Epub 2017 Apr 17 doi: 10.1111/bjh.14677. PMID: 28419427

Neutropenia: etiology and pathogenesis.

Schwartzberg LS
Clin Cornerstone 2006;8 Suppl 5:S5-11. doi: 10.1016/s1098-3597(06)80053-0. PMID: 17379162

See all (3417)

Prognosis

Epidemiology of congenital neutropenia.

Donadieu J, Beaupain B, Mahlaoui N, Bellanné-Chantelot C
Hematol Oncol Clin North Am 2013 Feb;27(1):1-17, vii. doi: 10.1016/j.hoc.2012.11.003. PMID: 23351985

Congenital fibrinogen disorders.

de Moerloose P, Neerman-Arbez M
Semin Thromb Hemost 2009 Jun;35(4):356-66. Epub 2009 Jul 13 doi: 10.1055/s-0029-1225758. PMID: 19598064

Neonatal infections.

Greenough A
Curr Opin Pediatr 1996 Feb;8(1):6-10. doi: 10.1097/00008480-199602000-00003. PMID: 8680517

Congenital afibrinogenemia.

al-Mondhiry H, Ehmann WC
Am J Hematol 1994 Aug;46(4):343-7. doi: 10.1002/ajh.2830460416. PMID: 8037188

Neonatal problems in twins.

McCulloch K
Clin Perinatol 1988 Mar;15(1):141-58. PMID: 3286090

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Clinical prediction guides

Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features.

Thompson AS, Giri N, Gianferante DM, Jones K, Savage SA, Alter BP, McReynolds LJ
Pediatr Res 2022 Dec;92(6):1671-1680. Epub 2022 Mar 23 doi: 10.1038/s41390-022-02009-8. PMID: 35322185 Free PMC Article

Inherited Platelet Disorders: Diagnosis and Management.

Al-Huniti A, Kahr WH
Transfus Med Rev 2020 Oct;34(4):277-285. Epub 2020 Sep 19 doi: 10.1016/j.tmrv.2020.09.006. PMID: 33082057

Neonatal leukaemia.

Roberts I, Fordham NJ, Rao A, Bain BJ
Br J Haematol 2018 Jul;182(2):170-184. Epub 2018 May 28 doi: 10.1111/bjh.15246. PMID: 29806701

How I manage children with neutropenia.

Dale DC
Br J Haematol 2017 Aug;178(3):351-363. Epub 2017 Apr 17 doi: 10.1111/bjh.14677. PMID: 28419427

Diamond-Blackfan anemia.

Krijanovski OI, Sieff CA
Hematol Oncol Clin North Am 1997 Dec;11(6):1061-77. doi: 10.1016/s0889-8588(05)70483-4. PMID: 9443046

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Recent systematic reviews

Iron supplements in pregnant women with normal iron status: A systematic review and meta-analysis.

Hansen R, Sejer EPF, Holm C, Schroll JB
Acta Obstet Gynecol Scand 2023 Sep;102(9):1147-1158. Epub 2023 Jul 5 doi: 10.1111/aogs.14607. PMID: 37403900 Free PMC Article

Congenital (hypo-)dysfibrinogenemia and bleeding: A systematic literature review.

Li Y, Ding B, Wang X, Ding Q
Thromb Res 2022 Sep;217:36-47. Epub 2022 Jul 14 doi: 10.1016/j.thromres.2022.07.005. PMID: 35853369

Ehlers-Danlos Syndrome Type Arthrochalasia: A Systematic Review.

Martín-Martín M, Cortés-Martín J, Tovar-Gálvez MI, Sánchez-García JC, Díaz-Rodríguez L, Rodríguez-Blanque R
Int J Environ Res Public Health 2022 Feb 7;19(3) doi: 10.3390/ijerph19031870. PMID: 35162892 Free PMC Article

Mortality in congenital hemophilia A - a systematic literature review.

Hay CRM, Nissen F, Pipe SW
J Thromb Haemost 2021 Jan;19 Suppl 1(Suppl 1):6-20. doi: 10.1111/jth.15189. PMID: 33331043 Free PMC Article

Daily oral iron supplementation during pregnancy.

Peña-Rosas JP, De-Regil LM, Garcia-Casal MN, Dowswell T
Cochrane Database Syst Rev 2015 Jul 22;2015(7):CD004736. doi: 10.1002/14651858.CD004736.pub5. PMID: 26198451 Free PMC Article

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Congenital hematological disorder

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

Recent activity