There was a patient with FMF that had a heterozygous TRNT1 mutation, which normally manifests as sideroblastic anemia
with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD).
Objective: To assess the clinicopathological heterogeneity of sideroblastic anemia
disorders characterized by the presence of ring sideroblasts in the bone marrow.
aplastic anemia, megaloblastic anemia, sideroblastic anemia
, pernicious anemia, thalassemia, and sickle cell anemia), thyroid dysfunction, chronic renal disease, menstrual irregularities, malabsorption syndrome, hypersensitivity to iron, or any of the components of the iron tablet and with history of prior intake of iron supplements 3 months before participating in the study were excluded from the study.
Miscellaneous disorders include overwhelming infections, mycobacterial infections, brucellosis, sarcoidosis, some refractory anemias, sideroblastic anemia
, and drug sensitivity.
Microcytic anemia is most commonly caused by thalassemia, anemia of chronic disease, iron deficiency, lead poisoning, or congenital sideroblastic anemia
The morphological findings in both the IDA and ssTT are at times so close that it is really difficult to differentiate one from the other.5 Differentiation between ssTT and IDA can be carried out effectively by involving the battery of tests including serum ferritin, serum iron and HbA level estimation.6 One must be vigilant to rule out relatively less common causes of this presentation, such as sideroblastic anemia
, chronic disorder, lead poisoning, and others.
(4,6,7) Ferritin is increased or normal in thalassemia, ACI, sideroblastic anemia
, and lead poisoning.
A histogram distribution that is bimodal can be seen in various situations, are usually associated with therapeutic transfusion and/or hematinic agent response to microcytic and macrocytic anemia, but they may also indicate other hematological disorders like cold agglutinin disease, in the presence of erythrocyte fragments, in IDA (microcytic) with recent blood transfusion, in sideroblastic anemia
especially in acquired forms, and megaloblastic anemia (macrocytic anemia) with recent blood transfusion.
A new syndrome of refractory sideroblastic anemia
with vacuolization of marrow precursors and exocrine pancreatic dysfunction.
X-linked sideroblastic anemia
(XLSA) is a rare disorder caused by mutations in the ALAS2 gene (56).
Iron deficiency may result from several other less commonly occurring conditions, including a disorder of iron utilization, sideroblastic anemia
, selected hemoglobinopathies, anemia related to chronic disorders, chronic inflammation, parasitic infections such as hookworm, and a deficiency of the plasma iron transporting protein, transferrin.
Disorders of iron metabolism and sideroblastic anemia
in Nathan and Oski's Hematology of infancy and childhood.