Anemias raras y fallos medulares hereditarios

Abstract

Las anemias raras y los fallos medulares hereditarios son enfermedades hematológicas caracterizadas, respectivamente, por una disminución de la concentración de hemoglobina o por diversos grados de defectos en la producción de células hematopoyéticas que conducen desde una citopenia de un solo linaje hasta una de múltiples linajes. Son enfermedades raras y difíciles de diagnosticar debido a la heterogeneidad clínica, citológica y genética. En este artículo abordaremos en primer lugar el diagnóstico de las anemias raras y sus causas principales: fallos medulares, defectos del hematíe y trastornos del metabolismo de los factores de maduración eritrocitario. Seguidamente introduciremos los fallos medulares hereditarios y su patología asociada, como son las malformaciones congénitas y la predisposición tumoral, haciendo especial hincapié en los más frecuentes: la anemia de Fanconi, la disqueratosis congénitca, la anemia de Diamond-Blackfan y el síndrome de Shwachman-Diamond.

Understanding Rare Anemias: Emerging Frontiers for Diagnosis and Treatment

“…FA represents the most prevalent inherited form of BMF, with an incidence ranging from one to five cases per million, and a carrier frequency between 1 in 200 and 1 in 300. It arises from mutations in at least 20 distinct genes responsible for DNA damage repair, leading to genomic instability [ 6 , 7 ]. Clinically, FA is characterized by reduced blood cell counts, developmental anomalies, and an elevated cancer risk.…”

Congenital Defects with Impaired Red Blood Cell Deformability – The Role of Next-Generation Ektacytometry

“…On the contrary, membranopathies, despite the morphological examination of stained blood smear, allow the diagnosis in a relatively important number of cases; it is frequently hampered by several interferences. Examples of these interferences are the following: (a) the coinheritance of more than one RBC defect [18], (b) the existence of de novo mutations [53][54][55][56][57], (c) the overlapping of clinical variability and (d), the degree of reticulocytosis and/or to the frequent blood transfusion requirements especially in newborns and children [58][59][60].…”

The Rare Anaemias

“…In both cases the consequence is a haemolytic syndrome characterized by anaemia of variable severity associated with a compensatory increase of bone marrow erythropoiesis and of circulating reticulocytes. In addition to anaemia, the haemolytic syndrome is characterized by three main clinical manifestations 1. reticulocytosis, 2. splenomegaly and 3. jaundice [18].…”