Inherited Aplastic Anaemia/Bone Marrow Failure Syndromes

A child with dyskeratosis congenita with <em>TINF2</em> mutation

“…It is estimated to constitute 2-5% of cases of bone marrow failure. DC is characterized by the bone marrow failure, mucocutaneous and somatic manifestations with a predisposition to malignancies 3 . The first case of DC in a Sri Lankan child was reported by Amerasena TSD, et al in 2005 4 .…”

“…bone marrow failure, abnormal skin pigmentation, nail dystrophy and leucoplakia with the presence of 2 or more somatic features. Somatic manifestations known to occur in DC include short stature, dental caries or loss, microcephaly, pulmonary or hepatic disease, enteropathy, hypogonadism, undescended testes and deafness 3,5 . This rare telomere disorder is genetically heterogenous in inheritance.…”

“…This rare telomere disorder is genetically heterogenous in inheritance. X-linked recessive inheritance accounts for 20-25% of cases; it occurs due to the mutation in DKC1 gene which encodes dyskerin protein, a component of telomerase 3,5 . Autosomal dominant cases (12-20% of reported cases) occur due to mutation in TERC, TERT TINF2 and NAF1 5 .…”

“…There was marked leucoplakia in the tongue and dental caries (Figure 1). ______________________________________________ 1 Registrar in Clinical Haematology, National Hospital Kandy, Sri Lanka, 2 Registrar in Paediatrics, 3 Consultant Paediatrician, Sirimavo Bandaranaike Specialized Children Hospital, Sri Lanka *Corresponding author: shafananaufer98@gmail.com https://orcid.org/0009-0004-0376-867X (Received on 07 July 2023: Accepted after revision on 18 August 2023) The authors declare that there are no conflicts of interest Personal funding was used for the project.…”

Frequency of Causes of Pancytopenia in Bone Marrow Samples of Patients

“…Aplastic anemia is a bone marrow failure syndrome which overlaps with other clonal disorders of bone marrow failure like myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), paroxysmal nocturnal hemoglobinuria (PNH) and acute lymphocytic leukemia (ALL)/ lymphomas. The rare inherited causes of aplastic anemia include Fanconi anemia, dyskeratosis congenita and Schwachman-Diamond Syndrome [9].…”