C R Subhasree

Abstract

Background: Thyroid hormones play an important role in human metabolism. Red blood cells abnormalities are mostly associated with thyroid hormones. However, they are very rarely investigated and associated to the permanent and transient congenital hypothyroidism in Tamil Nadu’s Government Territory care centre in Chennai. In this study, an attempt was made to study the haematological status in permanent and transient hypothyroidism neonates at birth. Materials and Methods: This retrospective study included 135 subjects, among which were permanent hypothyroidism (n=9), transient hypothyroidism (n=18), and euthyroid neonates (108). This study was carried out at department of biochemistry, Regenix super speciality laboratories and sample collection were done at Government Institute of Child’s health and hospital for children and Government institute of obstetrics and Gynaecology and hospital for Women under Madras Medical college, Chennai. The haematological parameters and thyroid profile of the subjects were assessed by sysmex heamatology analyser, Roche Cobas e411 ECLIA and Neonatal screening by BIORAD QUANTASE ELISA. Mean and standard deviation, analysis of variance (two way anova) with p Results: In this study group, we compared the homological status in these groups, permanent, transient, and euthyroid as controls neonates. We found that haematological status like Hb, RBC, MCV, and RDW were significantly increased at birth in both permanent and transient hypothyroidism were compared with euthyroid neonates, results are significant. The results reported in these are Mean ± S.D., were statistically tested by ANOVA. In permanent Congenital Hypothyroidism (CH), MCV (79.97-87.58 fl) and RDW (13.98-16.6%), whereas in Transient Congenital Hypothyroidism, MCV (72.52-87.05 fl) and RDW(13.41- 15.68%), and controls MCV (78.69-82.12 fl) and RDW(12.4 – 14.3%), suggesting that these patients were at risk of anemia and other RBS abnormalities. Mean corpuscular volume is an important to view the change in RBCs destruction, production, loss and orphology. Conclusion: The thyroid dyshormonogenesis is frequently associated with mothers’ complications like anemia, hypo/hyperthyroid mother, siblings developmental delay, and goitre. Permanent CH is associated with serious complication with erythrocyte abnormalities. The risk of congenital hypothyroidism cloud be getting into developmental delay and mentally retarded children, Such conditions should be detect early and corrected. Keywords: Thyroid dyshormonogenesis, Congenital hypothyroidism, Haemoglobin, Blood count, Mean corpuscular volume, Red blood cell distribution width.

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Abstract

Hyperammonaemia is a metabolic disease that can be known as ammonia levels in the bloodstream which can result in brain damage only if treated properly early at birth. Human disorders implicated in the nervous system’s inborn metabolism defects are organic aciduria with secondary hyperammonaemia. Most organic aciduria during neonatal period or early infancy become clinically apparent. The metabolic disorders involved are metabolic stress state with extreme levels of hyperammonaemia above 1000 mmol / L which is the discriminative feature for metabolic disorders diagnosis. We presented this case which has been identified by unique test as propionic acidemia to demonstrate that severe high levels of ammonia can be seen in organic acidemias. A propionic acidemia is caused by a carboxylase deficiency of propionyl-CoA that accumulates toxic compounds that affect brain metabolism. This is classified as a haematological disorder under the hereditary metabolic disease. Propionic acidemia is an inherited metabolic condition in which the body was incapable of adequately processing such protein catabolism and oxidation defects. In most cases, within a few days after birth, the characteristics of this condition become obvious. The primary signs include poor eating, diarrhea, appetite loss, hypotonia, and lethargy. Mutations in the PCCA (alpha unit) and PCCB (beta unit)genes cause propionic acidemia; it has an autosomal recessive pattern of inheritance. Keywords: Hyperammonaemia, Propionic Acidemia, Metabolic disorders, Lethargy, Inborn errors of metabolism, Neonatal period, Autosomal recessive.

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