Evaluation of Iron Status by Reticulocyte Haemoglobin Content (Chr) in Chronic Kidney Disease Patients on Haemodialysis and Erythropoietin.

Diagnosing iron deficiency with currently available tests is difficult in patients with chronic kidney disease (CKD) due to the inflammatory state associated with uraemia. The aim of this study was to evaluate the importance of reticulocyte haemoglobin (CHr) as a diagnostic tool of iron deficiency and a predictor to intravenous iron therapy in a cohort of CKD patients on haemodialysis in Sri Lanka. This was a descriptive cross sectional study involving hundred (100) patients with CKD on regular haemodialysis and erythropoietin. Patients were categorised into groups depending on serum ferritin, transferrin saturation and reticulocyte haemoglobin (CHr). All patients with CHr < 29 pg were treated with a single dose of intravenous(IV) iron 500 mg. The CHr was measured 72 h after the IV iron treatment to assess the response. Within the population mean haemoglobin was 9.27 g/dL, mean serum ferritin was 243.5 ng/mL, mean transferrin saturation was 18.6% and mean CHr was 29.2 pg. Thirty three of the 100 patients (33%) were subjected to IV iron therapy and there was a significant increase of CHr 72 h after IV iron treatment (p < 0.001). As a diagnostic tool in iron deficiency in CKD patients on haemodialysis, CHr showed a sensitivity of 56%, specificity of 73% and positive predictive value of 84%. Reticulocyte haemoglobin (CHr) can be used as an early predictor of response to IV iron therapy. However, further evaluation is necessary to consider CHr as a diagnostic tool to detect iron deficiency in CKD patients on haemodialysis.

Genotype-phenotype association analysis identifies the role of α globin genes in modulating disease severity of ß thalassaemia intermedia in Sri Lanka.

ß thalassaemia intermedia (ßTI) are a heterogeneous group of disorders known to be extremely phenotypically diverse. This group is more complex to manage as no definitive treatment guidelines exist unlike for ß thalassaemia major (ßTM). There are only a few studies looking at genotype phenotype associations of ßTI outside the Mediterranean region. The reasons for the diverse clinical phenotype in ßTI are unknown. We categorized fifty Sri Lankan patients diagnosed with ßTI as mild, moderate or severe according to published criteria. DNA samples were genotyped for ß thalassaemia mutations, α globin genotype and copy number and known genetic modifiers of haemoglobin F production. There were 26/50 (52.0%) in mild group and 12/50 (24.0%) each in moderate and sever categories. 18/26 (69.2%) classified as mild were ß heterozygotes and 17/18 (94.4%) had excess α globin genes. 11/12 (91.6%) classified as moderate were ß heterozygotes and 8/11 (72.2%) had excess α globin genes. In contrast, 8/12 (66.7%) classified as severe were ß homozygotes and 7/8(87.5%) had α globin gene deletions. In Sri Lanka, co-inheritance of either excess α globin genes in ß thalassaemia heterozygotes or α globin gene deletions in ß thalassaemia homozygotes is a significant factor in modulating disease severity.

Rare hemoglobin variants: Hb G-Szuhu (HBB: c.243C>G), Hb G-Coushatta (HBB: c.68A>C) and Hb Mizuho (HBB: c.206T>C) in Sri Lankan families.

In this short communication, we describe the clinical presentation of unusual hemoglobin (Hb), variants in three Sri Lankan cases under study for ß-thalassemia intermedia (ß-TI). We believe this is the first report on their occurrence in Sri Lanka as well as from the Indian subcontinent. During a molecular study performed on ß-TI patients, we identified three unusual Hb variants as Hb G-Szuhu (HBB: c.243C>G), Hb G-Coushatta (HBB: c.68A>C) and Hb Mizuho (HBB: c.206T>C) in three unrelated families. Hb G-Szuhu and Hb G-Coushatta were found in combination with the common ß-thalassemia (ß-thal) mutation, IVS-I-5 (G>C). Both probands had mild anemia with greatly reduced red cell indices and had non palpable livers and spleens, however, by ultrasound, both were observed to be enlarged. The final Hb variant, Hb Mizuho, was identified as a heterozygous mutation found in both proband and his mother. Both family members had severe anemia and were regularly transfused and had increased red cell parameters.

Baseline thrombocytopenia complicated by recurrent episodes of transient severe thrombocytopenia following infections in an adult woman with a non involuting congenital hemangioma - a case report.

BACKGROUND: Congenital hemangiomas are benign abnormal proliferation of blood vessels. Noninvoluting congenital hemangiomas are a rare variant which persist, and may become bigger. Hemangiomas are known to be associated with thrombocytopenia, microangiopathic hemolytic anemia and Kasabach-Merritt phenomenon. Kasabach-Merritt phenomenon is characterized by consumptive coagulopathy with microangiopathic haemolyic anemia and thrombocytopenia. Platelet sequestration in the hemangioma or increased destruction which may either be immune or non immune are also further contributors to thrombocytopenia. CASE PRESENTATION: A 45 year old female with a non involuting hemangioma and baseline thrombocytopenia was observed to develop repeated episodes of transient severe thrombocytopenia associated with a variety of infectious conditions. Laboratory investigations suggested a peripheral mechanism. Platelet counts always returned to baseline levels on resolution of the precipitating infection. CONCLUSION: The authors report this phenomenon as the first reported case of baseline thrombocytopenia complicated by recurrent episodes of transient severe thrombocytopenia following infections associated with a non involuting congenital hemangioma. The observations made in this patient were unique and hitherto unreported in medical literature. Both peripheral sequestration and destructive consumption were considered likely. Consumptive mechanisms were likely to encompass either or both immune and non immune causes. Further studies are needed to establish the precise pathogenesis.