Congenital hypoplastic anemia

From Wikipedia, the free encyclopedia

Congenital hypoplastic anemia
Classification and external resources
ICD-10	D61.0
ICD-9	284.0
OMIM	609135
MeSH	D029502

Congenital hypoplastic anemia (or constitutional aplastic anemia) refers to a type of aplastic anemia which is primarily due to a congenital disorder.

Associated genes include TERC, TERT, IFNG, NBS1, PRF1, and SBDS.^[1]

Examples include:

Fanconi anemia
Diamond-Blackfan anemia

References

↑ Online 'Mendelian Inheritance in Man' (OMIM) 609135

Pathology: hematology, hematologic diseases of RBCs and megakaryocytes / MEP (D50-69,74, 280-287)

Red
blood cells

↑

Poly- cythemia	Polycythemia vera

↓

Anemia

Nutritional

Micro-: Iron deficiency anemia
- Plummer-Vinson syndrome

Macro-: Megaloblastic anemia
- Pernicious anemia

Hemolytic
(mostly Normo-)

Hereditary	enzymopathy: G6PD glycolysis PK TI HK hemoglobinopathy: Thalassemia alpha beta delta Sickle-cell disease/trait HPFH membrane: Hereditary spherocytosis Minkowski-Chauffard syndrome Hereditary elliptocytosis Southeast Asian ovalocytosis Hereditary stomatocytosis

Acquired	Autoimmune WAHA CAD PCH membrane PNH MAHA TM HUS Drug-induced autoimmune Drug-induced nonautoimmune Hemolytic disease of the newborn

Aplastic
(mostly Normo-)

Blood tests

MCV
MCHC
- Normochromic
- Hypochromic

Other

Coagulation/
coagulopathy

↑

Hyper- coagulability	primary: Antithrombin III deficiency Protein C deficiency/Activated protein C resistance/Protein S deficiency/Factor V Leiden Prothrombin G20210A Sticky platelet syndrome acquired:Thrombocytosis essential DIC Congenital afibrinogenemia Purpura fulminans autoimmune Antiphospholipid

↓

Hypo-
coagulability

Thrombocytopenia	Thrombocytopenic purpura: ITP Evans syndrome TM TTP Heparin-induced thrombocytopenia May-Hegglin anomaly

Platelet function	adhesion Bernard–Soulier syndrome aggregation Glanzmann's thrombasthenia platelet storage pool deficiency Hermansky–Pudlak syndrome Gray platelet syndrome

Clotting factor	Hemophilia A/VIII B/IX C/XI von Willebrand disease Hypoprothrombinemia/II XIII Dysfibrinogenemia

M: MYL

cell/phys (coag, heme, immu, gran), csfs

rbmg/mogr/tumr/hist, sysi/epon, btst

drug (B1/2/3+5+6), btst, trns

This article is issued from Wikipedia. The text is available under the Creative Commons Attribution/Share Alike; additional terms may apply for the media files.