Congenital Hypoplastic Anemia

An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes LEUKOPENIA and THROMBOCYTOPENIA.

Also Known As:

Anemia, Hypoplastic, Congenital; Anemia, Congenital Hypoplastic; Anemias, Congenital Hypoplastic; Congenital Hypoplastic Anemias; Hypoplastic Anemias, Congenital; Hypoplastic Anemia, Congenital

Networked: 45 relevant articles (2 outcomes, 3 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Leukemia
2.	Disease Progression
3.	Diamond-Blackfan Anemia (Anemia, Diamond Blackfan)
4.	Aplastic Anemia (Anemia, Hypoplastic)
5.	Polymyositis

Experts

1.	Weiss, Mitchell J: 2 articles (12/2018 - 03/2015)
2.	Tchernia, Gil: 2 articles (12/2004 - 06/2003)
3.	Boals, Michelle: 1 article (12/2018)
4.	Bowling, Kevin M: 1 article (12/2018)
5.	Claassen, David: 1 article (12/2018)
6.	Cooper, Gregory M: 1 article (12/2018)
7.	Cox, Jennifer: 1 article (12/2018)
8.	Estepp, Jeremie H: 1 article (12/2018)
9.	Hershfield, Michael: 1 article (12/2018)
10.	Lewis, Sara: 1 article (12/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Congenital Hypoplastic Anemia:

1.	Adrenal Cortex Hormones (Corticosteroids)IBA 08/01/1990 - "In patients with congenital hypoplastic anemia the best results have been reported using corticosteroids. " 10/01/1976 - "Marrow transplantation was attempted in a 13-yr-old boy with congenital hypoplastic anemia who had never responded to corticosteroid therapy. " 08/01/1984 - "Allogeneic bone marrow transplantation (BMT) was carried out on a 5-year-old boy with congenital hypoplastic anemia (CHA), who did not respond to corticosteroids and who was displaying signs of progressive hemosiderosis. "
2.	SteroidsIBA 07/01/1981 - "A 14-month-old child with congenital hypoplastic anemia, in temporary remission after steroid therapy, developed an acute megakarioblastic leukemia. " 01/01/1982 - "A 19-year-old boy with congenital hypoplastic anemia (CHA) treated with long-term steroid therapy, presented with septic shock caused by Streptococcus pneumoniae. "
3.	DiamondIBA 01/01/1986 - "[Studies on the pathogenesis of congenital hypoplastic anemia (Diamond-Blackfan syndrome)]." 01/01/2013 - "Congenital hypoplastic anemia (Diamond-Blakcfan syndrom) is a genetically determined disorder which is manifested in early childhood with selective deficiency of erythrocyte line in bone marrow. " 12/01/1991 - "Congenital hypoplastic anemia (CHA; syn: Diamond-Blackfan syndrome) is a rare disorder with one of two patients a year in the Netherlands. " 03/01/1985 - "The CM-S cell line was established from the bone marrow of a patient suffering from congenital hypoplastic anemia (syndrome of Diamond-Blackfan). " 09/01/1982 - "Congenital hypoplastic anemia (Diamond-Blackfan syndrome) is thought to involve the erythropoietic cell line alone. "
4.	Erythropoietin FDA Link 01/01/1991 - "Treatment trial with recombinant human erythropoietin in children with congenital hypoplastic anemia." 09/03/1976 - "Peripheral blood lymphocytes from six patients with congenital hypoplastic anemia suppressed erythroid cell formation by normal human bone marrow cells in response to erythropoietin in vitro. " 02/01/1978 - "To explore the etiology of congenital hypoplastic anemia (CHA) or the Diamond-Blackfan anemia, erythropoietin responsive committed erythroid precursors were enumerated by the plasma clot method. " 03/01/1976 - "Four children with congenital hypoplastic anemia (Diamond-Blackfan syndrome) and 30 control children with normal erythropoiesis were studied by a cell culture method in which human marrow, grown in a plasma clot, responds to added erythropoietin (EPO) with the appearance of discrete colonies of nucleated erythroid cells. "
5.	EnzymesIBA 05/01/1978 - "This patient's diagnosis of congenital hypoplastic anemia is supported by her clinical course, absence of renal abnormalities, a negative family history for hematologic disorders, normal chromosome studies, failure of her skin fibroblasts to transform in culture with SV-40 virus, macrocytic erythrocyte indices, erythrocyte enzyme studies, and bone marrow findings. "
6.	Tryptophan (L-Tryptophan)FDA Link 04/01/1954 - "DEFECT in tryptophan metabolism in congenital hypoplastic anemia." 02/01/1970 - "Excretion of urinary tryptophan metabolites by patients with congenital hypoplastic anemia (Diamond-Blackfan syndrome)." 08/25/1960 - "[On the spontaneous urinary excretion of metabolites of the tryptophan-nicotinic acid interaction of 2 infant brothers with the Fanconi type of congenital hypoplastic anemia]."
7.	Ribosomal Proteins (Ribosomal Protein)IBA 08/01/2018 - "Diamond-Blackfan anemia (DBA) is a severe congenital hypoplastic anemia caused by mutation in a ribosomal protein gene. " 11/01/2008 - "Diamond-Blackfan anemia (DBA) is a rare congenital hypoplastic anemia caused by mutations in ribosomal protein (RP) genes. " 12/01/2004 - "Mutations in the ribosomal protein (RP)S19 gene have been found in about 25% of the cases of Diamond-Blackfan anemia (DBA), a rare congenital hypoplastic anemia that includes variable physical malformations. "
8.	Deferoxamine (Desferal)FDA LinkGeneric 09/01/1988 - "[Effect of continuous subcutaneous infusion of deferoxamine in a boy with congenital hypoplastic anemia]." 01/01/1982 - "Effect of subcutaneous deferoxamine and oral vitamin C on iron excretion in congenital hypoplastic anemia and refractory anemia associated with the 5q-syndrome."
9.	Antilymphocyte Serum (Anti-Thymocyte Globulin)IBA 03/01/1985 - "Eight patients with severe aplastic anemia (SAA) and two patients with congenital hypoplastic anemia (CHA) were treated with absorbed samples of rabbit anti-thymocyte globulin (ATG) at a total dose of 50-75 mg/kg body weight intravenously over 5 days. " 01/01/1985 - "Forty-six patients with severe aplastic anemia (SAA), 1 with adult pure red cell aplasia (PRCA), 1 with congenital hypoplastic anemia (Diamond-Blackfan) and 1 with severe polymyositis were treated with intravenous antilymphocyte globulins (ALG) of different sources (2 of equine and 1 of rabbit origin). "
10.	Adenosine DeaminaseIBA 12/01/2018 - "Clinical persistence and suspicion led to testing for adenosine deaminase 2 (ADA2) activity and whole-genome sequencing (WGS) that identified compound heterozygous pathogenic mutations in the ADA2-encoding CECR1 gene, a recently appreciated etiology for congenital hypoplastic anemia. " 12/15/1983 - "These observations indicate that erythrocyte adenosine deaminase activity may be a unique marker for identifying congenital hypoplastic anemia." 12/15/1983 - "Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia." 12/15/1983 - "We report data showing that erythrocyte adenosine deaminase activity is also abnormal in congenital hypoplastic anemia (the Diamond-Blackfan syndrome). "

Therapies and Procedures

1.	Therapeutics 01/01/1982 - "Chronic refractory anemia associated with congenital hypoplastic anemia (CHA, Blackfan-Diamond syndrome) and with the 5q-syndrome may require chronic transfusion therapy to sustain life. " 10/01/1976 - "Marrow transplantation was attempted in a 13-yr-old boy with congenital hypoplastic anemia who had never responded to corticosteroid therapy. " 07/01/1981 - "A 14-month-old child with congenital hypoplastic anemia, in temporary remission after steroid therapy, developed an acute megakarioblastic leukemia. " 01/01/1982 - "A 19-year-old boy with congenital hypoplastic anemia (CHA) treated with long-term steroid therapy, presented with septic shock caused by Streptococcus pneumoniae. "
2.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 04/01/1977 - "Bone marrow transplantation in congenital hypoplastic anemia." 10/01/1976 - "Establishment of erythropoiesis following bone marrow transplantation in a patient with congenital hypoplastic anemia (Diamond-Blackfan syndrome)." 08/01/1984 - "Allogeneic bone marrow transplantation (BMT) was carried out on a 5-year-old boy with congenital hypoplastic anemia (CHA), who did not respond to corticosteroids and who was displaying signs of progressive hemosiderosis. "
3.	Subcutaneous Infusions 09/01/1988 - "[Effect of continuous subcutaneous infusion of deferoxamine in a boy with congenital hypoplastic anemia]."
4.	Transplantation 10/01/1976 - "Marrow transplantation was attempted in a 13-yr-old boy with congenital hypoplastic anemia who had never responded to corticosteroid therapy. "