Fanconi Anemia — Case Report of Rare Aplastic Anemia at Child

Abstract

Introduction: Fanconi anemia is an autosomal recessive disease characterized by congenital abnormalities, defective haematopoiesis, and a high risk of developing acute myeloid leukaemia, myelodysplastic syndrome and cancers. FA was first described in 1927 by the Swiss pediatrician Guido Fanconi. The diagnosis is based on morphological abnormalities, hematologic abnormalities (pancytopenia, macrocytic anemia and progressive bone marrow failure) and genetic tests (cariograma). Case report: We present the case of a child with Fanconi anemia. Although skin and bone morphological abnormalities were present from birth, diagnosis was suspected at 11 years old. Conclusions: Fanconi anemia is a heterogeneous condition that can present a variety of congenital defects but invariably results in defective haemopoiesis, which is the major cause of morbidity and mortality.

Oral and Dental Manifestations of Fanconi Anemia

“…The cellular composition of the bone marrow (myelogram) is examined for diagnosis clarification. The bone marrow biopsy reveals whether it is hypocellular or fatty [1]. In families where there have been cases of childbirth with FA, for all subsequent pregnancies, it is recommended a prenatal diagnosis to be done using cordocentesis (taking umbilical cord material) to find out the risk that the fetus has FA [24].…”

“…Fanconi anemia (FA) is a rare disease, which bears the name of the famous Swiss paediatrician Guido Fanconi, who first discovered the disease [1]. The average birth rate of children with FA is approximately 1 case per 350, 000 newborns.…”

“…The average birth rate of children with FA is approximately 1 case per 350, 000 newborns. It occurs with the same frequency in both males and females, among all nationalities [1]. FA is a congenital disorder that is inherited in an autosomal recessive manner, i.e., if the father and mother are carriers of the defective gene (they can be completely clinically healthy), then, with each delivery, there is a 25% risk for a child to have this disease.…”

Fanconi Anemia: A Rare Genetic Disorder

“…It was first recognized as a fatal, progressing anemia with brown skin pigmentation in 1927 [ 1 ]. In three brothers with abnormalities such as short stature, hypogonadism and skin pigmentation, Fanconi depicted a familial form of aplastic anemia [ 2 ]. Fanconi anemia affects one to five people per million people [ 3 ].…”

Screening for mutations in two exons of FANCG gene in Pakistani population

“…Genomic instability is the characterstic feature of this disease and is manifested both at cellular level and clinically 1 . Cellular manifestations of genetic instability include chromosomal breakage, cell cycle disturbance and increased rate of somatic mutations while phenotypic manifestations include growth retardation, congenital malformations, bone marrow failure, high risk of neoplasia and premature aging 2 . Sixteen FA genes have been identified to date.…”