Congenital hypoplastic anemia

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Congenital hypoplastic anemia
Other namesConstitutional aplastic anemia
Specialty Hematology

Congenital hypoplastic anemia is a congenital disorder that occasionally also includes leukopenia and thrombocytopenia and is characterized by deficiencies of red cell precursors. [1]

Contents

Types of congenital hypoplastic anemia include Diamond–Blackfan anemia, Fanconi anemia, [1] Shwachman–Diamond syndrome, Majeed syndrome, Congenital dyserythropoietic anemia type III, and Cartilage–hair hypoplasia. [2]

Types

See also

Related Research Articles

<span class="mw-page-title-main">Myelodysplastic syndrome</span> Diverse collection of blood-related cancers

A myelodysplastic syndrome (MDS) is one of a group of cancers in which immature blood cells in the bone marrow do not mature, and as a result, do not develop into healthy blood cells. Early on, no symptoms typically are seen. Later, symptoms may include fatigue, shortness of breath, bleeding disorders, anemia, or frequent infections. Some types may develop into acute myeloid leukemia.

<span class="mw-page-title-main">Neutropenia</span> Abnormally low concentration of neutrophils (a type of white blood cell) in the blood

Neutropenia is an abnormally low concentration of neutrophils in the blood. Neutrophils make up the majority of circulating white blood cells and serve as the primary defense against infections by destroying bacteria, bacterial fragments and immunoglobulin-bound viruses in the blood. People with neutropenia are more susceptible to bacterial infections and, without prompt medical attention, the condition may become life-threatening.

<span class="mw-page-title-main">Fanconi anemia</span> Medical condition

Fanconi anemia (FA) is a rare, AR, genetic disease resulting in impaired response to DNA damage in the FA/BRCA pathway. Although it is a very rare disorder, study of this and other bone marrow failure syndromes has improved scientific understanding of the mechanisms of normal bone marrow function and development of cancer. Among those affected, the majority develop cancer, most often acute myelogenous leukemia (AML), MDS, and liver tumors. 90% develop aplastic anemia by age 40. About 60–75% have congenital defects, commonly short stature, abnormalities of the skin, arms, head, eyes, kidneys, and ears, and developmental disabilities. Around 75% have some form of endocrine problem, with varying degrees of severity. 60% of FA is FANC-A, 16q24.3, which has later onset bone marrow failure.

<span class="mw-page-title-main">Megaloblastic anemia</span> Medical condition

Megaloblastic anemia is a type of macrocytic anemia. An anemia is a red blood cell defect that can lead to an undersupply of oxygen. Megaloblastic anemia results from inhibition of DNA synthesis during red blood cell production. When DNA synthesis is impaired, the cell cycle cannot progress from the G2 growth stage to the mitosis (M) stage. This leads to continuing cell growth without division, which presents as macrocytosis. Megaloblastic anemia has a rather slow onset, especially when compared to that of other anemias. The defect in red cell DNA synthesis is most often due to hypovitaminosis, specifically vitamin B12 deficiency or folate deficiency. Loss of micronutrients may also be a cause.

<span class="mw-page-title-main">Cyclic neutropenia</span> Medical condition

Cyclic neutropenia (CyN) is a rare hematologic disorder and form of congenital neutropenia that tends to occur approximately every three weeks and lasting for few days at a time due to changing rates of neutrophil production by the bone marrow. It causes a temporary condition with a low absolute neutrophil count and because the neutrophils make up the majority of circulating white blood cells it places the body at severe risk of inflammation and infection. In comparison to severe congenital neutropenia, it responds well to treatment with granulocyte colony-stimulating factor (filgrastim), which increases the neutrophil count, shortens the cycle length, as well decreases the severity and frequency of infections.

Severe congenital neutropenia (SCN), also often known as Kostmann syndrome or disease, is a group of rare disorders that affect myelopoiesis, causing a congenital form of neutropenia, usually without other physical malformations. SCN manifests in infancy with life-threatening bacterial infections. It causes severe pyogenic infections. It can be caused by autosomal dominant inheritance of the ELANE gene, autosomal recessive inheritance of the HAX1 gene. There is an increased risk of leukemia and myelodysplastic cancers.

Diamond–Blackfan anemia (DBA) is a congenital erythroid aplasia that usually presents in infancy. DBA causes low red blood cell counts (anemia), without substantially affecting the other blood components, which are usually normal. This is in contrast to Shwachman–Bodian–Diamond syndrome, in which the bone marrow defect results primarily in neutropenia, and Fanconi anemia, where all cell lines are affected resulting in pancytopenia. There is a risk to develop acute myelogenous leukemia (AML) and certain other cancers.

Aplasia is a birth defect where an organ or tissue is wholly or largely absent. It is caused by a defect in a developmental process.

<span class="mw-page-title-main">GATA1</span> Protein-coding gene in humans

GATA-binding factor 1 or GATA-1 is the founding member of the GATA family of transcription factors. This protein is widely expressed throughout vertebrate species. In humans and mice, it is encoded by the GATA1 and Gata1 genes, respectively. These genes are located on the X chromosome in both species.

Reticulocytopenia is the medical term for an abnormal decrease in circulating red blood cell precursors (reticulocytes) that can lead to anemia due to resulting low red blood cell (erythrocyte) production. Reticulocytopenia may be an isolated finding or it may not be associated with abnormalities in other hematopoietic cell lineages such as those that produce white blood cells (leukocytes) or platelets (thrombocytes), a decrease in all three of these lineages is referred to as pancytopenia.

Chronic recurrent multifocal osteomyelitis (CRMO) is a rare condition (1:1,000,000), in which the bones have lesions, inflammation, and pain. It is called multifocal because it can appear in different parts of the body, primarily bones, and osteomyelitis because it is very similar to that disease, although CRMO appears to be without any infection.

<span class="mw-page-title-main">Hexokinase deficiency</span> Medical condition

Hexokinase deficiency is an extremely rare autosomal recessive condition that falls under the category of erythroenzymopathies, or defects in red cell enzymes. Hexokinase deficiency manifests is associated with chronic nonspherocytic hemolytic anemia. Hemolytic anemia seems to be the only clinical sign of hexokinase deficiency. In 1967 the first case of hexokinase deficiency was described by Valentine et al, since then, less than 50 cases have been reported.

<span class="mw-page-title-main">Congenital amegakaryocytic thrombocytopenia</span> Medical condition

Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare autosomal recessive bone marrow failure syndrome characterized by severe thrombocytopenia, which can progress to aplastic anemia and leukemia. CAMT usually manifests as thrombocytopenia in the initial month of life or in the fetal phase. Typically CAMPT presents with petechiae, cerebral bleeds, recurrent rectal bleeding, or pulmonary hemorrhage.

Congenital hemolytic anemia (CHA) is a diverse group of rare hereditary conditions marked by decreased life expectancy and premature removal of erythrocytes from blood flow. Defects in erythrocyte membrane proteins and red cell enzyme metabolism, as well as changes at the level of erythrocyte precursors, lead to impaired bone marrow erythropoiesis. CAH is distinguished by variable anemia, chronic extravascular hemolysis, decreased erythrocyte life span, splenomegaly, jaundice, biliary lithiasis, and iron overload. Immune-mediated mechanisms may play a role in the pathogenesis of these uncommon diseases, despite the paucity of data regarding the immune system's involvement in CHAs.

Louis Klein Diamond was an American pediatrician, known as the "father of pediatric hematology."

<span class="mw-page-title-main">Congenital dyserythropoietic anemia</span> Red blood cell disorder

Congenital dyserythropoietic anemia (CDA) is a rare blood disorder, similar to the thalassemias. CDA is one of many types of anemia, characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood. CDA may be transmitted by both parents autosomal recessively or dominantly.

<span class="mw-page-title-main">Shwachman–Diamond syndrome</span> Medical condition

Shwachman–Diamond syndrome (SDS), or Shwachman–Bodian–Diamond syndrome, is a rare congenital disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal and cardiac abnormalities and short stature. After cystic fibrosis (CF), it is the second most common cause of exocrine pancreatic insufficiency in children. It is associated with the SBDS gene and has autosomal recessive inheritance.

Majeed syndrome is an inherited skin disorder characterized by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and a neutrophilic dermatosis. It is classified as an autoinflammatory bone disorder. The condition is found in people with two defective copies of the LPIN2 gene. LPIN2 encodes lipin-2 which is involved in lipid metabolism. The pathogenesis of this mutation with the clinical manifestations has not been elucidated.

Ribosomopathies are diseases caused by abnormalities in the structure or function of ribosomal component proteins or rRNA genes, or other genes whose products are involved in ribosome biogenesis.

References

  1. 1 2 "Anemia, Hypoplastic, Congenital". NCBI. October 31, 2023. Retrieved December 18, 2023.
  2. ↑ "Monarch Initiative". Monarch Initiative. Retrieved December 18, 2023.
  3. ↑ Willig, Thiébaut-Noël; Gazda, Hanna; Sieff, Colin A (March 2000). "Diamond-Blackfan anemia". Current Opinion in Hematology. 7 (2): 85–94. doi:10.1097/00062752-200003000-00003. PMID   10698294 . Retrieved 18 December 2023.
  4. ↑ JOSEPHS, HUGH W. (1936). "Anaemia of Infancy and Early Childhood". Medicine. Ovid Technologies (Wolters Kluwer Health). 15 (3): 307–451. doi: 10.1097/00005792-193615030-00001 . ISSN   0025-7974.
  5. ↑ Diamond, LK; Blackfan, KD (1938). "Hypoplastic Anemia". American Journal of Diseases of Children. 56: 464–467.
  6. ↑ Diamond, LK; Wang, WC; Alter, BP (1976). "Congenital hypoplastic anemia". Advances in Pediatrics. 22: 349–378. doi:10.1016/S0065-3101(22)00757-5. PMID   773132. S2CID   23407603.
  7. ↑ Da Costa, Lydie; Leblanc, Thierry; Mohandas, Narla (September 10, 2020). "Diamond-Blackfan anemia". Blood. American Society of Hematology. 136 (11): 1262–1273. doi: 10.1182/blood.2019000947 . ISSN   0006-4971. PMC   7483438 . PMID   32702755.
  8. ↑ Willig, Thiébaut-Noël; Niemeyer, Charlotte M; Leblanc, Thierry; Tiemann, Christian; Robert, Alain; Budde, Jörg; Lambiliotte, Anne; Kohne, Elisabeth; Souillet, Gérard; Eber, Stephan; Stephan, Jean-Louis; Girot, Robert; Bordigoni, Pierre; Cornu, Guy; Blanche, Stéphane; Guillard, Jean Marie; Mohandas, Narla (1999). "Identification of New Prognosis Factors from the Clinical and Epidemiologic Analysis of a Registry of 229 Diamond-Blackfan Anemia Patients". Pediatric Research. Springer Science and Business Media LLC. 46 (5): 553–561. doi: 10.1203/00006450-199911000-00011 . ISSN   0031-3998. PMID   10541318.
  9. ↑ Vlachos, Adrianna; Ball, Sarah; Dahl, Niklas; Alter, Blanche P.; Sheth, Sujit; Ramenghi, Ugo; Meerpohl, Joerg; Karlsson, Stefan; Liu, Johnson M.; Leblanc, Thierry; Paley, Carole; Kang, Elizabeth M.; Leder, Eva Judmann; Atsidaftos, Eva; Shimamura, Akiko; Bessler, Monica; Glader, Bertil; Lipton, Jeffrey M. (August 21, 2008). "Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference". British Journal of Haematology. Wiley. 142 (6): 859–876. doi:10.1111/j.1365-2141.2008.07269.x. ISSN   0007-1048. PMC   2654478 . PMID   18671700.
  10. ↑ Orfali, Karen A.; Ohene‐Abuakwa, Yaw; Ball, Sarah E. (March 23, 2004). "Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity". British Journal of Haematology. Wiley. 125 (2): 243–252. doi: 10.1111/j.1365-2141.2004.04890.x . ISSN   0007-1048. PMID   15059149.
  11. ↑ Lipton, Jeffrey M. (February 1, 2007). "Diamond-Blackfan anemia: "novel" mechanisms—ribosomes and the erythron". Blood. 109 (3): 850–851. doi: 10.1182/blood-2006-11-056796 . Retrieved 18 December 2023.
  12. ↑ Lipton, Jeffrey M.; Ellis, Steven R. (2009). "Diamond-Blackfan Anemia: Diagnosis, Treatment, and Molecular Pathogenesis". Hematology/Oncology Clinics of North America. Elsevier BV. 23 (2): 261–282. doi:10.1016/j.hoc.2009.01.004. ISSN   0889-8588. PMC   2886591 . PMID   19327583.
  13. ↑ Auerbach, Arleen D. (2009). "Fanconi anemia and its diagnosis". Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis. Elsevier BV. 668 (1–2): 4–10. doi:10.1016/j.mrfmmm.2009.01.013. ISSN   0027-5107. PMC   2742943 . PMID   19622403.
  14. ↑ Bagby, Grover C.; Alter, Blanche P. (2006). "Fanconi Anemia". Seminars in Hematology. Elsevier BV. 43 (3): 147–156. doi:10.1053/j.seminhematol.2006.04.005. ISSN   0037-1963. PMID   16822457.
  15. ↑ Soulier, Jean (December 10, 2011). "Fanconi Anemia". Hematology. American Society of Hematology. 2011 (1): 492–497. doi: 10.1182/asheducation-2011.1.492 . ISSN   1520-4391. PMID   22160080.
  16. ↑ Kee, Younghoon; D’Andrea, Alan D. (November 1, 2012). "Molecular pathogenesis and clinical management of Fanconi anemia". Journal of Clinical Investigation. American Society for Clinical Investigation. 122 (11): 3799–3806. doi: 10.1172/jci58321 . ISSN   0021-9738. PMC   3484428 . PMID   23114602.
  17. 1 2 3 4 Shimamura, Akiko (2006). "Shwachman-Diamond Syndrome". Seminars in Hematology. Elsevier BV. 43 (3): 178–188. doi:10.1053/j.seminhematol.2006.04.006. ISSN   0037-1963. PMID   16822460.
  18. ↑ Goobie, Sharan; Popovic, Maja; Morrison, Jodi; Ellis, Lynda; Ginzberg, Hedy; Boocock, Graeme R.B.; Ehtesham, Nadia; Bétard, Christine; Brewer, Carl G.; Roslin, Nicole M.; Hudson, Thomas J.; Morgan, Kenneth; Fujiwara, T. Mary; Durie, Peter R.; Rommens, Johanna M. (2001). "Shwachman-Diamond Syndrome with Exocrine Pancreatic Dysfunction and Bone Marrow Failure Maps to the Centromeric Region of Chromosome 7". The American Journal of Human Genetics. Elsevier BV. 68 (4): 1048–1054. doi:10.1086/319505. ISSN   0002-9297. PMC   1275624 . PMID   11254457.
  19. ↑ Mack, DR; Forstner, GG; Wilschanski, M; Freedman, MH; Durie, PR (1996). "Shwachman syndrome: Exocrine pancreatic dysfunction and variable phenotypic expression". Gastroenterology. Elsevier BV. 111 (6): 1593–1602. doi: 10.1016/s0016-5085(96)70022-7 . ISSN   0016-5085. PMID   8942739.
  20. ↑ Aggett, P.J.; Harries, J.T.; Harvey, Betty A.M.; Soothill, J.F. (1979). "An inherited defect of neutrophil mobility in Shwachman syndrome". The Journal of Pediatrics. Elsevier BV. 94 (3): 391–394. doi:10.1016/s0022-3476(79)80578-8. ISSN   0022-3476. PMID   423020.
  21. ↑ Bogusz-Wójcik, Agnieszka; Kołodziejczyk, Honorata; Moszczyńska, Elżbieta; Klaudel-Dreszler, Maja; Oracz, Grzegorz; Pawłowska, Joanna; Szalecki, Mieczysław (June 30, 2021). "Endocrine dysfunction in children with Shwachman-Diamond syndrome". Endokrynologia Polska. VM Media SP. zo.o VM Group SK. 72 (3): 211–216. doi: 10.5603/ep.a2021.0014 . ISSN   2299-8306. PMID   33619711.
  22. ↑ Raj, Ashok B.; Bertolone, Salvatore J.; Barch, Margaret J; Hersh, Joseph H. (2003). "Chromosome 20q Deletion and Progression to Monosomy 7 in a Patient With Shwachman-Diamond Syndrome Without MDS/AML". Journal of Pediatric Hematology/Oncology. Ovid Technologies (Wolters Kluwer Health). 25 (6): 508–509. doi:10.1097/00043426-200306000-00018. ISSN   1077-4114. PMID   12794535.
  23. ↑ KORNFELD, S; KRATZ, J; DIAMOND, F; DAY, N; GOOD, R (1995). "Shwachman-Diamond syndrome associated with hypogammaglobulinemia and growth hormone deficiency". Journal of Allergy and Clinical Immunology. Elsevier BV. 96 (2): 247–250. doi: 10.1016/s0091-6749(95)70014-5 . ISSN   0091-6749. PMID   7636061.
  24. ↑ Aggett, P J; Cavanagh, N P; Matthew, D J; Pincott, J R; Sutcliffe, J; Harries, J T (May 1, 1980). "Shwachman's syndrome. A review of 21 cases". Archives of Disease in Childhood. BMJ. 55 (5): 331–347. doi: 10.1136/adc.55.5.331 . ISSN   0003-9888. PMC   1626878 .
  25. ↑ SAVILAHTI, ERKKI; RAPOLA, JUHANI (1984). "Frequent Myocardial Lesions in Shwachman's Syndrome". Acta Paediatrica. Wiley. 73 (5): 642–651. doi:10.1111/j.1651-2227.1984.tb09989.x. ISSN   0803-5253. PMID   6485783. S2CID   22982801.
  26. ↑ Burroughs, Lauri; Woolfrey, Ann; Shimamura, Akiko (2009). "Shwachman-Diamond Syndrome: A Review of the Clinical Presentation, Molecular Pathogenesis, Diagnosis, and Treatment". Hematology/Oncology Clinics of North America. Elsevier BV. 23 (2): 233–248. doi:10.1016/j.hoc.2009.01.007. ISSN   0889-8588. PMC   2754297 . PMID   19327581.
  27. ↑ Dror, Yigal (2005). "Shwachman‐Diamond syndrome". Pediatric Blood & Cancer. 45 (7): 892–901. doi:10.1002/pbc.20478. ISSN   1545-5009. S2CID   30113216.
  28. ↑ Ferguson, Polly J.; El-Shanti, Hatem (February 28, 2021). "Majeed Syndrome: A Review of the Clinical, Genetic and Immunologic Features". Biomolecules. MDPI AG. 11 (3): 367. doi: 10.3390/biom11030367 . ISSN   2218-273X. PMC   7997317 . PMID   33670882.
  29. ↑ Al‐Mosawi, Zakiya S.; Al‐Saad, Khulood K.; Ijadi‐Maghsoodi, Roya; El‐Shanti, Hatem I.; Ferguson, Polly J. (February 28, 2007). "A splice site mutation confirms the role of LPIN2 in Majeed syndrome". Arthritis & Rheumatism. Wiley. 56 (3): 960–964. doi: 10.1002/art.22431 . ISSN   0004-3591. PMID   17330256.
  30. ↑ Bianchi, Paola; Fermo, Elisa; Vercellati, Cristina; Boschetti, Carla; Barcellini, Wilma; Iurlo, Alessandra; Marcello, Anna Paola; Righetti, Pier Giorgio; Zanella, Alberto (2009). "Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene". Human Mutation. 30 (9): 1292–1298. doi:10.1002/humu.21077. PMID   19621418. S2CID   11804195.
  31. ↑ Mäkitie, O.; Kaitila, I. (1993). "Cartilage-hair hypoplasia — clinical manifestations in 108 Finnish patients". European Journal of Pediatrics. 152 (3): 211–217. doi:10.1007/BF01956147. ISSN   0340-6199. S2CID   10611620.

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