Refractory macrocytic anemia

MedGen UID:: 382516
•Concept ID:: C2675059
•: Disease or Syndrome; Finding

Synonym:	Macrocytic anemia, refractory

HPO:	HP:0004861

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVRefractory macrocytic anemia

Phenotypic abnormality
- Abnormality of blood and blood-forming tissues
  - Abnormal erythrocyte morphology
    - Anemia
      - Macrocytic anemia
        Refractory macrocytic anemia

Conditions with this feature

Myelodysplastic syndrome associated with isolated del(5q)

MedGen UID:: 196625
•Concept ID:: C0740302
•: Disease or Syndrome

The 5q- syndrome is a myelodysplastic syndrome characterized by a defect in erythroid differentiation. Patients have severe macrocytic anemia, normal or elevated platelet counts, normal or reduced neutrophil counts, erythroid hypoplasia in the bone marrow, and hypolobated micromegakaryocytes (Ebert et al., 2008).

See: Condition Record

Myelodysplastic syndrome associated with isolated del(5q)

Professional guidelines

PubMed

The basis for folinic acid treatment in neuro-psychiatric disorders.

Ramaekers VT, Sequeira JM, Quadros EV
Biochimie 2016 Jul;126:79-90. Epub 2016 Apr 8 doi: 10.1016/j.biochi.2016.04.005. PMID: 27068282

The 5q- syndrome: biology and treatment.

Padron E, Komrokji R, List AF
Curr Treat Options Oncol 2011 Dec;12(4):354-68. doi: 10.1007/s11864-011-0165-1. PMID: 21964863

Diamond-blackfan anemia: etiology, pathophysiology, and treatment.

Halperin DS, Freedman MH
Am J Pediatr Hematol Oncol 1989 Winter;11(4):380-94. PMID: 2694854

See all (4)

Recent clinical studies

Etiology

Hematologic and cytogenetic remission of 5q-refractory anemia after syngeneic bone marrow transplantation.

Stuart RK, Mangan KF
Am J Med 1986 Mar;80(3):503-7. doi: 10.1016/0002-9343(86)90728-x. PMID: 3082200

Acute myeloblastic leukemia following non-Hodgkin lymphoma in an adolescent. A report of a case with preleukemic syndrome, and review of the literature.

Kaur P, Miller DR, Andreeff M, Chaganti R, Meyers PA
Med Pediatr Oncol 1981;9(1):69-80. doi: 10.1002/mpo.2950090110. PMID: 7007854

See all (2)

Diagnosis

Case 40. Misdiagnosis of refractory macrocytic anemia.

Stringaris K, Bain B
Leuk Lymphoma 2008 Nov;49(11):2196-7. doi: 10.1080/10428190802419665. PMID: 19021064

Hematologic and clinical features of patients with chromosome 5 monosomy or deletion (5q).

Brusamolino E, Orlandi E, Morra E, Bernasconi P, Pagnucco G, Colombo A, Lazzarino M, Bernasconi C
Med Pediatr Oncol 1988;16(2):88-94. doi: 10.1002/mpo.2950160204. PMID: 3352540

Hematologic and cytogenetic remission of 5q-refractory anemia after syngeneic bone marrow transplantation.

Stuart RK, Mangan KF
Am J Med 1986 Mar;80(3):503-7. doi: 10.1016/0002-9343(86)90728-x. PMID: 3082200

Acute myeloblastic leukemia following non-Hodgkin lymphoma in an adolescent. A report of a case with preleukemic syndrome, and review of the literature.

Kaur P, Miller DR, Andreeff M, Chaganti R, Meyers PA
Med Pediatr Oncol 1981;9(1):69-80. doi: 10.1002/mpo.2950090110. PMID: 7007854

Chronic erythremic myelosis profiling a refractory anemia.

Kass L
Postgrad Med 1975 Nov;58(6):161-6. doi: 10.1080/00325481.1975.11714208. PMID: 1059074

See all (5)