MOLECULAR STUDY - DIAMOND BLACKFAN ANEMIA (RPL5, RPS1O, RPL11) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4043

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
TAT (Days):	35 days
Information:
Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia. Both sexes are equally affected and no ethnic predisposition has been identified. The anemia is discovered early in life, usually within the first 2 years; diagnosis after 4 years of age is very unlikely. Pallor and dyspnea, especially during feeding or while sucking, are the principal warning signs. Over half of all DBA patients present with short stature and congenital anomalies, the most frequent being craniofacial, thumb and urogenital anomalies. Pregnancies in DBA-affected women are now identified as high-risk, for both mother and child. DBA patients may also be at a higher risk of leukemia and cancer. DBA is inherited as an autosomal dominant trait with variable penetrance. At present, disease-causing mutations are identified in 40-45% of patients. All involved genes code for ribosomal proteins (RPs). Mutations in RPS19 are found in 25% of patients. The only clear genotype/phenotype correlation made so far is the frequent occurrence of craniofacial abnormalities in RPL5 and RPL11 mutation carriers and the rarity of these anomalies in RPS19 mutation carriers. Genetic counseling and prenatal diagnosis are difficult because of the variability of clinical expression and the fact that only 40-45% of patients have an identified mutation within a RP gene. Close ultrasound follow-up during the pregnancy is recommended in all cases. The prognosis is generally good. However, complications of treatment and a higher incidence of cancer may reduce life expectancy.
Links:
OMIM Entry - # 612561 - DIAMOND-BLACKFAN ANEMIA 6; DBA6
OMIM Entry - # 612562 - DIAMOND-BLACKFAN ANEMIA 7; DBA7
OMIM Entry - # 613308 - DIAMOND-BLACKFAN ANEMIA 9; DBA9
Orphanet- Blackfan Diamond disease Blackfan Diamond anemia
OMIM Entry - - 603632 - RIBOSOMAL PROTEIN S10; RPS10
OMIM Entry - - 603634 - RIBOSOMAL PROTEIN L5; RPL5
OMIM Entry - - 604175 - RIBOSOMAL PROTEIN L11; RPL11

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