• BLOOD RESEARCH
• /
• v.53 no.4
• /
• pp.314-319
• /
• 2018

Background Iron overload is a risk factor affecting all patients with thalassemia intermedia (TI). We aimed to determine whether there is a relationship of serum ferritin (SF) and alanine aminotransferase (ALT) with liver iron concentration (LIC) determined by R2 magnetic resonance imaging (R2-MRI), to estimate the most relevant degree of iron overload and best time to chelate in patients with TI. Methods In this cross-sectional study, 119 patients with TI (mean age years) were randomly selected and compared with 120 patients who had a diagnosis of thalassemia major (TM). Correlations of LIC, as determined by R2-MRI, with SF and ALT levels, were assessed in all participants. A P-value <0.05 was considered statistically significant. Results SF and LIC levels were lower in patients with TI than in those with TM; only ferritin values were significant. We found a statistically significant relationship between SF and LIC, with cut-off estimates of SF in patients with TI who had splenectomy and those who entered puberty spontaneously (916 and 940 ng/mL, respectively) with LIC >5 mg Fe/g dry weight (P<0.0001). A significant relationship was also found for patients with TI who had elevated ALT level (63.5 U/L), of 3.15 times the upper normal laboratory limit, using a cut-off for LIC ${\geq}5mg\;Fe/g\;dry\;weight$. Conclusion We determined the cut-off values for ALT and SF indicating the best time to start iron chelation therapy in patients with TI, and found significant correlations among iron overload, SF, and ALT.

• Clinical and Experimental Pediatrics
• /
• v.45 no.5
• /
• pp.659-663
• /
• 2002

${\beta}$ thalassemias are usually transmitted as autosomal recessive traits. However, some dominant forms of ${\beta}$ thalassemia have been identified in individuals who have inherited a single copy of an abnormal ${\beta}$ globin gene. Thalassemia intermedia with mild anemia, jaundice, and splenomegaly has been observed in these patients. Electrophoresis has shown elevated Hemoglobin(Hb) $A_2$ and Hb F levels. In particular, there are inclusion bodies in the erythroid precursors and peripheral red blood cells after splenectomy. The molecular basis of these dominant ${\beta}$ thalassemias is heterogeneous. The authors studied the first Korean case of dominantly inherited ${\beta}$ thalassemia due to Hb Dieppe. Hb Dieppe is a missense mutation of ${\beta}$ codon $127(CAG{\rightarrow}CGG)Gln{\rightarrow}Arg$. The patient in this case was characterized by moderate anemia, hypochromia, microcytosis, elevated Hb $A_2$ levels, elevated Hb F levels and splenomegaly. The father of the patient also has the same disease. We report this case and review related literature.