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Familial hemolytic anemia

MedGen UID:: 1919
•Concept ID:: C0002881
•: Disease or Syndrome

Synonym:	Congenital hemolytic anemia
SNOMED CT:	Hereditary hemolytic anemia (38911009); Congenital hemolytic anemia (42601008)

HPO:	HP:0004804
Monarch Initiative:	MONDO:0003689

Definition

A form of hemolytic anemia with congenital onset. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVFamilial hemolytic anemia

Phenotypic abnormality
- Abnormality of blood and blood-forming tissues
  - Abnormal erythrocyte morphology
    - Anemia
      - Congenital anemia
        Familial hemolytic anemia
        Anemia due to membrane defect
        Hereditary elliptocytosis
        Elliptocytosis 1
        Elliptocytosis 2
        Elliptocytosis 3
        Southeast Asian ovalocytosis
        Hereditary spherocytosis
        Hereditary spherocytosis type 1
        Hereditary spherocytosis type 2
        Hereditary spherocytosis type 3
        Hereditary spherocytosis type 4
        Hereditary spherocytosis type 5
        Infantile pyknocytosis
        Pyropoikilocytosis, hereditary
        Congenital dyserythropoietic anemia
        Congenital dyserythropoietic anemia type 4
        Congenital dyserythropoietic anemia, type I
        Anemia, congenital dyserythropoietic, type 1a
        Congenital dyserythropoietic anemia type type 1B
        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
        Congenital nonspherocytic hemolytic anemia
        G6PD deficiency
        Favism
        Hb SS disease
        Acute chest syndrome
        Sickle cell trait
        Sickle cell-hemoglobin C disease
        Sickle Cell-SS Disease
        Hemoglobin C disease
        Thalassemia
        alpha Thalassemia
        Hemoglobin Bart hydrops syndrome
        Hemoglobin H disease
        Hydrops fetalis
        beta Thalassemia
        Beta thalassemia intermedia
        Beta-thalassemia HBB/LCRB
        Beta-thalassemia major
        Delta-beta-thalassemia
        Dominant beta-thalassemia
        Hemoglobin Lepore Syndrome
        Thalassemia intermedia
        Thalassemia minor
        Transfusion Dependent Beta Thalassemia
        Beta Thalassemia Plus Structural Variants
        delta Thalassemia
        S-Beta Thalassemia
        Transfusion Dependent Thalassemia
        Triosephosphate isomerase deficiency

Conditions with this feature

Hemolytic anemia with thermal sensitivity of red cells

MedGen UID:: 343488
•Concept ID:: C1856158
•: Disease or Syndrome

See: Condition Record

Hemolytic anemia with thermal sensitivity of red cells

Professional guidelines

PubMed

A peculiar familial hemolytic anemia in the tropics; its differential diagnosis from thalassemia (Mediterranean anemia).

STRANSKY E
Acta Haematol 1951 Oct;6(4):193-206. doi: 10.1159/000203921. PMID: 14914419

See all (1)

Recent clinical studies

Etiology

Open heart surgery in an infant with hereditary spherocytosis and a review of literature.

Menon S, Saxena MS, M S R
J Card Surg 2021 Feb;36(2):720-722. Epub 2020 Dec 7 doi: 10.1111/jocs.15220. PMID: 33284479

Defects in processing and trafficking of the AE1 Cl-/HCO3- exchanger associated with inherited distal renal tubular acidosis.

Shayakul C, Alper SL
Clin Exp Nephrol 2004 Mar;8(1):1-11. doi: 10.1007/s10157-003-0271-x. PMID: 15067510

Familial Hemolytic Anemia and its Surgical Aspect with Special Reference to a Case Complicated by the Rh Factor.

Pfeiffer DB, Levering JW, Grover HB
Ann Surg 1947 Dec;126(6):990-1001. doi: 10.1097/00000658-194712000-00011. PMID: 17859049 Free PMC Article

See all (3)

Diagnosis

Hereditary spherocytosis with immunoglobulin A nephropathy.

Biyikli NK, Gokce I, Cakalagaoglu F, Turkkan E, Alpay H
Iran J Kidney Dis 2010 Jan;4(1):78-81. PMID: 20081310

Familial hemolytic anemia due to Hb Sabine [beta 91(F7)Leu-->Pro] identified by polymerase chain reaction.

Hull D, Winter PC, McHale CM, Lappin TR, Mayne EE
Hemoglobin 1998 May;22(3):263-6. doi: 10.3109/03630269809113139. PMID: 9629500

A peculiar familial hemolytic anemia in the tropics; its differential diagnosis from thalassemia (Mediterranean anemia).

STRANSKY E
Acta Haematol 1951 Oct;6(4):193-206. doi: 10.1159/000203921. PMID: 14914419

See all (3)

Therapy

A familial hemolytic anemia associated with sulfa administration.

Dickerman JD
Hosp Pract (Off Ed) 1981 Sep;16(9):41, 44, 47. doi: 10.1080/21548331.1981.11946832. PMID: 6792043

See all (1)

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Familial hemolytic anemia

Definition

Term Hierarchy

Conditions with this feature

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

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Genetic Testing Registry

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Practice guidelines

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