U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Search results

Items: 3

1.

Diamond-Blackfan anemia 11

Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma. [from GeneReviews]

MedGen UID:
766956
Concept ID:
C3554042
Disease or Syndrome
2.

Diamond-Blackfan anemia 18

Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma. [from GeneReviews]

MedGen UID:
1681154
Concept ID:
C5193020
Disease or Syndrome
3.

Granulocytic hypoplasia

Decreased number of granulocyte precursors in the bone marrow. [from HPO]

MedGen UID:
488976
Concept ID:
C1534864
Finding
Format

Send to:

Choose Destination

Supplemental Content

Find related data

Search details

See more...

Recent activity