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Hemolytic anemia due to erythrocyte adenosine deaminase overproduction(CNSHA9)

MedGen UID:
400240
Concept ID:
C1863235
Disease or Syndrome
Synonyms: Adenosine deaminase, elevated, hemolytic anemia due to; ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 9; CNSHA9; ERYTHROCYTE ADA, ELEVATED, HEMOLYTIC ANEMIA DUE TO
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): GATA1 (Xp11.23)
 
Monarch Initiative: MONDO:0020458
OMIM®: 301083
Orphanet: ORPHA99138

Definition

Congenital nonspherocytic hemolytic anemia-9 (CNSHA9) is an X-linked hematologic disorder characterized by onset of mild to moderate red cell anemia soon after birth or in childhood. The anemia is associated with significantly increased activity of ADA (608958) specifically in erythrocyte precursors. ATP levels may be secondarily decreased. Additional features may include low birth weight, thrombocytopenia, hypospadias, and splenomegaly. Males are preferentially affected, although carrier females may show elevated erythrocyte ADA or mild features (Ludwig et al., 2022). [from OMIM]

Clinical features

From HPO
Hemolytic anemia
MedGen UID:
1916
Concept ID:
C0002878
Disease or Syndrome
A type of anemia caused by premature destruction of red blood cells (hemolysis).
Erythroid hyperplasia
MedGen UID:
4536
Concept ID:
C0014800
Disease or Syndrome
Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.
Reticulocytosis
MedGen UID:
60089
Concept ID:
C0206160
Finding
An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.
Stomatocytosis
MedGen UID:
760280
Concept ID:
C0677598
Laboratory or Test Result
The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear.
Reduced erythrocyte adenosine triphosphate concentration
MedGen UID:
1841667
Concept ID:
C5826911
Finding
Concentration of adenosine triphosphate (ATP) in red blood cells (erythrocytes) below the lower limit of normal.
Hyperbilirubinemia
MedGen UID:
86321
Concept ID:
C0311468
Finding
An increased amount of bilirubin in the blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHemolytic anemia due to erythrocyte adenosine deaminase overproduction

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