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Erythroid hypoplasia

MedGen UID:
488912
Concept ID:
C0542035
Disease or Syndrome
Synonyms: Erythroblastopenia; Erythroid hypoplasia in the bone marrow
 
HPO: HP:0012133

Definition

Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVErythroid hypoplasia

Conditions with this feature

Reticular dysgenesis
MedGen UID:
124417
Concept ID:
C0272167
Disease or Syndrome
Reticular dysgenesis, the most severe form of inborn severe combined immunodeficiency (SCID), is characterized by absence of granulocytes and almost complete deficiency of lymphocytes in peripheral blood, hypoplasia of the thymus and secondary lymphoid organs, and lack of innate and adaptive humoral and cellular immune functions, leading to fatal septicemia within days after birth (summary by Pannicke et al., 2009).
Transcobalamin II deficiency
MedGen UID:
137976
Concept ID:
C0342701
Disease or Syndrome
Transcobalamin II deficiency is an autosomal recessive disorder with onset in early infancy characterized by failure to thrive, megaloblastic anemia, and pancytopenia. Other features include methylmalonic aciduria, recurrent infections, and vomiting and diarrhea. Treatment with cobalamin results in clinical improvement, but the untreated disorder may result in mental retardation and neurologic abnormalities (summary by Haberle et al., 2009). Hall (1981) gave a clinically oriented review of congenital defects of vitamin B12 transport, and Frater-Schroder (1983) gave a genetically oriented review.
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).
Diamond-Blackfan anemia 5
MedGen UID:
382705
Concept ID:
C2675859
Disease or Syndrome
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.
Diamond-Blackfan anemia 4
MedGen UID:
393906
Concept ID:
C2675860
Disease or Syndrome
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.
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
MedGen UID:
414066
Concept ID:
C2751630
Disease or Syndrome
G6PC3 deficiency is characterized by severe congenital neutropenia which occurs in a phenotypic continuum that includes the following: Isolated severe congenital neutropenia (nonsyndromic). Classic G6PC3 deficiency (severe congenital neutropenia plus cardiovascular and/or urogenital abnormalities). Severe G6PC3 deficiency (classic G6PC3 deficiency plus involvement of non-myeloid hematopoietic cell lines, additional extra-hematologic features, and pulmonary hypertension; known as Dursun syndrome). Neutropenia usually presents with recurrent bacterial infections in the first few months of life. Intrauterine growth restriction (IUGR), failure to thrive (FTT), and poor postnatal growth are common. Other findings in classic and severe G6PC3 deficiency can include inflammatory bowel disease (IBD) resembling Crohn's disease, and endocrine disorders (growth hormone deficiency, hypogonadotropic hypogonadism, and delayed puberty).
Bone marrow failure syndrome 5
MedGen UID:
1648380
Concept ID:
C4748488
Disease or Syndrome
Bone marrow failure syndrome-5 (BMFS5) is a hematologic disorder characterized by infantile onset of severe red cell anemia requiring transfusion. Additional features include hypogammaglobulinemia, poor growth with microcephaly, developmental delay, and seizures (summary by Toki et al., 2018) For a discussion of genetic heterogeneity of BMFS, see BMFS1 (614675).
Diamond-Blackfan anemia 18
MedGen UID:
1681154
Concept ID:
C5193020
Disease or Syndrome
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.
Diamond-Blackfan anemia 19
MedGen UID:
1683070
Concept ID:
C5193021
Disease or Syndrome
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.
Diamond-Blackfan anemia 20
MedGen UID:
1674961
Concept ID:
C5193022
Disease or Syndrome
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.
Diamond-Blackfan anemia 21
MedGen UID:
1824003
Concept ID:
C5774230
Disease or Syndrome
Diamond-Blackfan anemia-21 (DBA21) is an autosomal recessive bone marrow failure syndrome that includes selective erythroid hypoplasia, anemia with transient thrombocytopenia, short stature, facial dysmorphism, limb abnormalities, cardiac defects, and intellectual disability (O'Donohue et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (105650).

Professional guidelines

PubMed

Padron E, Komrokji R, List AF
Expert Rev Hematol 2011 Feb;4(1):61-9. doi: 10.1586/ehm.11.2. PMID: 21322779
Naithani R, Chandra J, Narayan S, Singh V, Dutta AK
Hematology 2006 Jun;11(3):193-5. doi: 10.1080/10245330600774777. PMID: 17325961
Rendina EA, Pescarmona EO, Venuta F, Nardi S, De Rosa G, Martelli M, Ricci C
Tumori 1988 Feb 29;74(1):79-84. doi: 10.1177/030089168807400114. PMID: 3354066

Recent clinical studies

Etiology

Da Costa LM, Marie I, Leblanc TM
Hematology Am Soc Hematol Educ Program 2021 Dec 10;2021(1):353-360. doi: 10.1182/hematology.2021000314. PMID: 34889440Free PMC Article
Obiorah IE, Patel BA, Groarke EM, Wang W, Trick M, Ombrello AK, Ferrada MA, Wu Z, Gutierrez-Rodrigues F, Lotter J, Wilson L, Hoffmann P, Cardona DO, Patel N, Dulau-Florea A, Kastner DL, Grayson PC, Beck DB, Young NS, Calvo KR
Blood Adv 2021 Aug 24;5(16):3203-3215. doi: 10.1182/bloodadvances.2021004976. PMID: 34427584Free PMC Article
Zhang L, McGraw KL, Sallman DA, List AF
Leuk Lymphoma 2017 Aug;58(8):1777-1790. Epub 2016 Dec 14 doi: 10.1080/10428194.2016.1266625. PMID: 27967292
Willig TN, Gazda H, Sieff CA
Curr Opin Hematol 2000 Mar;7(2):85-94. doi: 10.1097/00062752-200003000-00003. PMID: 10698294
Krijanovski OI, Sieff CA
Hematol Oncol Clin North Am 1997 Dec;11(6):1061-77. doi: 10.1016/s0889-8588(05)70483-4. PMID: 9443046

Diagnosis

Da Costa LM, Marie I, Leblanc TM
Hematology Am Soc Hematol Educ Program 2021 Dec 10;2021(1):353-360. doi: 10.1182/hematology.2021000314. PMID: 34889440Free PMC Article
Obiorah IE, Patel BA, Groarke EM, Wang W, Trick M, Ombrello AK, Ferrada MA, Wu Z, Gutierrez-Rodrigues F, Lotter J, Wilson L, Hoffmann P, Cardona DO, Patel N, Dulau-Florea A, Kastner DL, Grayson PC, Beck DB, Young NS, Calvo KR
Blood Adv 2021 Aug 24;5(16):3203-3215. doi: 10.1182/bloodadvances.2021004976. PMID: 34427584Free PMC Article
Padron E, Komrokji R, List AF
Expert Rev Hematol 2011 Feb;4(1):61-9. doi: 10.1586/ehm.11.2. PMID: 21322779
Willig TN, Gazda H, Sieff CA
Curr Opin Hematol 2000 Mar;7(2):85-94. doi: 10.1097/00062752-200003000-00003. PMID: 10698294
Krijanovski OI, Sieff CA
Hematol Oncol Clin North Am 1997 Dec;11(6):1061-77. doi: 10.1016/s0889-8588(05)70483-4. PMID: 9443046

Therapy

Padron E, Komrokji R, List AF
Expert Rev Hematol 2011 Feb;4(1):61-9. doi: 10.1586/ehm.11.2. PMID: 21322779
Shimamoto T, Ohyashiki K
Leuk Lymphoma 2003 Apr;44(4):593-604. doi: 10.1080/1042819021000055345. PMID: 12769335
Piercy RJ, Swardson CJ, Hinchcliff KW
J Am Vet Med Assoc 1998 Jan 15;212(2):244-7. PMID: 9448829
Halpérin DS
Am J Pediatr Hematol Oncol 1991 Fall;13(3):351-63. doi: 10.1097/00043426-199123000-00020. PMID: 1793163
Tavassoli M
Blood 1982 Nov;60(5):1059-67. PMID: 7126864

Prognosis

Yang CF, Hsu CY, Hsiao LT, Chen SW, Chuang SS
Malays J Pathol 2023 Dec;45(3):405-416. PMID: 38155382
Obiorah IE, Patel BA, Groarke EM, Wang W, Trick M, Ombrello AK, Ferrada MA, Wu Z, Gutierrez-Rodrigues F, Lotter J, Wilson L, Hoffmann P, Cardona DO, Patel N, Dulau-Florea A, Kastner DL, Grayson PC, Beck DB, Young NS, Calvo KR
Blood Adv 2021 Aug 24;5(16):3203-3215. doi: 10.1182/bloodadvances.2021004976. PMID: 34427584Free PMC Article
Zhang L, McGraw KL, Sallman DA, List AF
Leuk Lymphoma 2017 Aug;58(8):1777-1790. Epub 2016 Dec 14 doi: 10.1080/10428194.2016.1266625. PMID: 27967292
Padron E, Komrokji R, List AF
Expert Rev Hematol 2011 Feb;4(1):61-9. doi: 10.1586/ehm.11.2. PMID: 21322779
García-Suárez J, Pascual T, Muñoz MA, Herrero B, Pardo A
Am J Hematol 1998 Aug;58(4):319-25. doi: 10.1002/(sici)1096-8652(199808)58:4<319::aid-ajh12>3.0.co;2-2. PMID: 9692397

Clinical prediction guides

Shimamoto T, Ohyashiki K
Leuk Lymphoma 2003 Apr;44(4):593-604. doi: 10.1080/1042819021000055345. PMID: 12769335
Willig TN, Gazda H, Sieff CA
Curr Opin Hematol 2000 Mar;7(2):85-94. doi: 10.1097/00062752-200003000-00003. PMID: 10698294
Krijanovski OI, Sieff CA
Hematol Oncol Clin North Am 1997 Dec;11(6):1061-77. doi: 10.1016/s0889-8588(05)70483-4. PMID: 9443046
Halpérin DS
Am J Pediatr Hematol Oncol 1991 Fall;13(3):351-63. doi: 10.1097/00043426-199123000-00020. PMID: 1793163
Tavassoli M
Blood 1982 Nov;60(5):1059-67. PMID: 7126864

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