Fanconi’s anemia (FA) alson called Fanconi Pancytopenia is a rare, potentially life-threatening failure of haemopoiesis characterized by aplastic anemia that is associated with a variety of congenital abnormalities (...Fanconi’s anemia (FA) alson called Fanconi Pancytopenia is a rare, potentially life-threatening failure of haemopoiesis characterized by aplastic anemia that is associated with a variety of congenital abnormalities (Cafe-au-lait spots, abnormalities of fingers, hyperpigmentation of the skin, short stature, microcephaly, deformities of the ear, hypogenitalism, renal anomalies, etc.) and a high risk of developing of malignancy and chromosomal instability. FA is the first described in 1927 by Guido Funconi reported 3 brothers with pancytopenia and physical anomalies. The diagnosis is based on morphological abnormalities, hematologic abnormalities and genetic tests. The present case report describes a 10 years old Somali boy was diagnosed with a Fanconi anemia after recurrent blood transfusion. Though aplastic anaemia in children is an important haematological disorder, there is no study having been undertaken in Somalia and this is the first reported by the patient with Fanconi’s anemia in Somalia. We report this case to create awareness among clinicians the presence of this disease and have a consideration when it comes differentiatal diagnosis of recurrent blood transfusion patients with pancytopenia because it’s a rare genetic disease in Mogadishu and around the world.展开更多
文摘Fanconi’s anemia (FA) alson called Fanconi Pancytopenia is a rare, potentially life-threatening failure of haemopoiesis characterized by aplastic anemia that is associated with a variety of congenital abnormalities (Cafe-au-lait spots, abnormalities of fingers, hyperpigmentation of the skin, short stature, microcephaly, deformities of the ear, hypogenitalism, renal anomalies, etc.) and a high risk of developing of malignancy and chromosomal instability. FA is the first described in 1927 by Guido Funconi reported 3 brothers with pancytopenia and physical anomalies. The diagnosis is based on morphological abnormalities, hematologic abnormalities and genetic tests. The present case report describes a 10 years old Somali boy was diagnosed with a Fanconi anemia after recurrent blood transfusion. Though aplastic anaemia in children is an important haematological disorder, there is no study having been undertaken in Somalia and this is the first reported by the patient with Fanconi’s anemia in Somalia. We report this case to create awareness among clinicians the presence of this disease and have a consideration when it comes differentiatal diagnosis of recurrent blood transfusion patients with pancytopenia because it’s a rare genetic disease in Mogadishu and around the world.
