From Wikipedia, the free encyclopedia
Medical condition
Congenital hypoplastic anemia is a
congenital disorder that occasionally also includes
leukopenia and
thrombocytopenia and is characterized by deficiencies of red cell precursors.
[1]
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
Diamond–Blackfan anemia is a is an uncommon congenital hypoplastic anemia that often manifests in the first few months of life.
[3] Josephs initially noted
Diamond-Blackfan anemia in 1936,
[4] and Diamond and Blackfan provided a more thorough description of the condition in 1938.
[5] The 1976 publication of the
Diamond-Blackfan anemia diagnostic criteria states that the condition must manifest before the patient turns one year old and must include near-normal or slightly decreased
neutrophil counts,
reticulocytopenia , variable
platelet counts,
macrocytosis , and normal
marrow cellularity with a deficiency of red cell precursors.
[6]
Diamond-Blackfan anemia in infants manifests as
anemia -related symptoms such as
pallor ,
failure to thrive , and difficulty sucking when nursing or using a bottle.
[7] Fifty percent of Diamond-Blackfan anemia patients are reported to have
congenital malformations in addition to
anemia .
[8] The incidence of
Diamond-Blackfan anemia is 7 cases per million live births.
[9] About 40–45% of
Diamond-Blackfan anemia cases are familial and have
autosomal dominant inheritance; the remaining cases are either sporadic or familial and appear to have distinct inheritance patterns.
[10]
RPS19 currently has the most prevalent mutation. There are 113 distinct
RPS19 mutations linked to
Diamond-Blackfan anemia .
[11]
Red cell transfusions and
corticosteroids are the cornerstones of Diamond-Blackfan anemia treatment since 1951.
[12]
Fanconi anemia (FA) is a genetically and phenotypically diverse recessive disorder that is characterized by a variety of
congenital malformations ,
pancytopenia that progresses over time, and a susceptibility to solid tumors as well as
hematologic malignancies . Each patient has a unique set of congenital anomalies that can impact any major organ system or skeletal morphogenesis.
[13] Although FA can occur in patients without
congenital defects and be diagnosed in adulthood, classic clinical features like
growth retardation , small head size,
café-au-lait spots , radial ray defects, and renal structural abnormalities can be powerful diagnostic clues. Although
macrocytosis and fetal
hemoglobin (HbF) increases are frequently observed, their absence does not rule out illness. The MMC or DEB chromosomal breakage test is the accepted method for diagnosing FA.
[14] There are currently fifteen known FANC genes, with
FANCA ,
FANCC ,
FANCG , and
FANCD2 being the most common.
[15] For certain FA patients,
androgen therapy works well in treating bone marrow failure. Hematopoietic abnormalities in FA patients have been successfully treated with synthetic androgens like
danazol and
oxymetholon . When bone marrow fails in FA,
hematopoietic stem cell transplantation is still the first line of treatment of choice.
[16]
Shwachman–Diamond syndrome (SDS) is a
leukemia predisposition and
exocrine pancreatic insufficiency -related
autosomal recessive
marrow failure syndrome.
[17] Roughly 90% of patients who fit the clinical criteria for SDS diagnosis have
SBDS gene mutations.
SBDS corresponds to
chromosome 7 's 7q11 centromeric region.
[18]
Steatorrhea and
failure to thrive are the typical early presentations of SDS patients. Reduced levels of
fat-soluble vitamins (
A ,
D ,
E , and
K ) may occur.
[17] Young patients with SDS frequently have
hepatomegaly with elevated liver
transaminases , usually two to three times higher than the normal range.
[19] In 88% to 100% of patients with SDS,
neutropenia —generally defined as a
neutrophil count of less than 1,500 109/L—is the most prevalent sign of
bone marrow failure . About two thirds of patients have
intermittent neutropenia , while the remaining third have chronic
neutropenia .
Neutrophil counts can be anywhere from normal to very low.
[17]
In vitro , there is a reduction in
neutrophil numbers as well as neutrophil
chemotaxis .
[20] There might be more
cytopenias present as well. 42% to 66% of patients have been reported to have
anemia . Usually, the
reticulocyte count is not raised.
RBCs can be either
macrocytic or
normocytic . A common characteristic of many inherited marrow failure syndromes is elevated
hemoglobin F levels, which are frequently present. Typically defined as less than 150 109/L,
thrombocytopenia affects 24% to 60% of patients.
[17] Endocrine abnormalities in SDS include
hypothyroidism ,
[21]
hypogonadotropic hypogonadism ,
[22]
growth hormone deficiency ,
[23] and
insulin-dependent diabetes .
[24]
Cardiomyopathies have also been reported in some cases.
[25] The main characteristics of SDS are pancreatic exocrine and bone marrow dysfunction, which are the basis for the majority of clinical phenotype-based diagnoses.
[26] Currently, the sole treatment for the hematological complications in SDS is
hematopoietic stem cell transplantation .
[27]
Majeed syndrome is a multi-system inflammatory disease that manifests as
congenital dyserythropoietic anemia , chronic multifocal
osteomyelitis , and neutrophilic dermatosis.
[28] The
phosphatidic acid phosphatase gene, LPIN2, is mutated in the disease, which is an autosomal recessive disorder.
[29]
Congenital dyserythropoietic anemia type III (CDAII) is an
autosomal recessive disease characterized by
hemolysis ,
erythroblast morphological abnormalities, hypoglycosylation of certain RBC membrane proteins, and ineffective
erythropoiesis .
[30]
Cartilage–hair hypoplasia is a metaphyseal chondrodysplasia that is autosomally recessive and characterized by
short stature , hypoplastic hair, impaired immunity, and aberrant erythrogenesis.
[31]
See also
References
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Further reading
Chavan, Pallavi Pimpale; Aksentijevich, Ivona; Daftary, Aditya; Panwala, Hiren; Khemani, Chetna; Khan, Archana; Khubchandani, Raju (May 15, 2021). "Majeed Syndrome: Five Cases With Novel Mutations From Unrelated Families in India With a Review of Literature". The Journal of Rheumatology . 48 (12): 1850–1855.
doi :
10.3899/jrheum.201663 .
ISSN
0315-162X .
PMID
33993107 .
S2CID
234745719 .
Sandstrom, H; Wahlin, A (January 1, 2000).
"Congenital dyserythropoietic anemia type III" . Haematologica . 85 (7): 753–757.
ISSN
1592-8721 .
PMID
10897128 . Retrieved December 18, 2023 .
Makitie, O; Sulisalo, T; de la Chapelle, A; Kaitila, I (January 1, 1995).
"Cartilage-hair hypoplasia" . Journal of Medical Genetics . 32 (1). BMJ: 39–43.
doi :
10.1136/jmg.32.1.39 .
ISSN
1468-6244 .
PMC
1050177 .
PMID
7897625 .
External links
Diamond–Blackfan anemia -
MedlinePlus ,
Cleveland Clinic ,
National Organization for Rare Disorders ,
WebMD , and
Orphanet .
Fanconi anemia -
MedlinePlus ,
Cleveland Clinic ,
National Organization for Rare Disorders ,
WebMD , and
Orphanet .
Shwachman–Diamond syndrome -
MedlinePlus ,
Cleveland Clinic ,
National Organization for Rare Disorders ,
Boston Children’s Hospital , and
Orphanet .
Majeed syndrome -
MedlinePlus ,
OMIM ,
Genetic and Rare Diseases Information Center ,
Orphanet , and
DermNet .
Congenital dyserythropoietic anemia type III -
OMIM 1 ,
OMIM 2 ,
Orphanet , and
Genetic and Rare Diseases Information Center .
Cartilage–hair hypoplasia -
MedlinePlus ,
Genetic and Rare Diseases Information Center ,
Orphanet ,
Johns Hopkins Medicine , and
Nemours Children's Health .
Classification External resources