Thalassemia refers to a group of disorders of globin chain production in which there is an imbalance between the α-globin and β-globin chains, which results in a relative excess of the α-globin chain. β-Thalassemia major refers to the severe form of β-Thalassemia which requires early blood transfusion therapy and often is homozygous for β mutations.

According to WHO 3.3% is the average frequency of Thalassemia carriers in India. In the state of Madhya Pradesh high prevalence of β-Thalassemia trait (20.70%) is observed [1]. Over the past three decades, regular blood transfusions and iron chelation have dramatically improved the quality of life and transformed Thalassemia major from a rapidly fatal disease in early childhood to a chronic disease compatible with prolonged life. Today life expectancy varies between 25-55 years, depending on the compliance with medical treatment.

Endocrine functions of Thalassemic children progressively decline with age secondary to hemosiderosis and nutritional deficiencies, resulting in multiple endocrinopathies like hypothyroidism, growth hormone deficiency, delayed puberty, diabetes mellitus and osteoporosis. So, all these children require regular monitoring of endocrine functions after 5 years of age, and regular monitoring of height, weight semi-annually.

To study the clinical profile and laboratory parameters of Thalassemia major patients between age group 1-14 years.

Type of study: It was a Descriptive- Observational study carried out in the Department of Pediatric Medicine, Kamla Nehru Hospital in collaboration with the Department of Biochemistry, Department of Pathology and Department of Microbiology of GMC, Bhopal, (M.P). Within 12 months from March 2017 to February 2018.

Sample collection and methods: This study was conducted on 101 children with β-Thalassemia major patients aged between 1-14 year being regularly transfused at the Department of Pediatric Medicine, Kamla Nehru Hospital, Gandhi Medical College Bhopal, (M.P.).

3. Coexisting cardiac or pulmonary disease.
4. Chronic haemolytic anaemia, other than β-Thalassemia major.
5. Thalassemia minor
6. Beta –thalassemia with any other haemolytic anaemia

Ethical permission: The study was performed after obtaining proper ethical clearance from the respective ethical committee.

Statistical analysis: The data collected were analysed with Graph Ped statistical software version 7.0. Continuous variables were presented as mean for parametric data. The student t test was applied for the calculation of statistical significance whenever the data followed normative distribution.

Nominal categorical data between the groups have been compared using Chi-square test or Fisher's exact test as appropriate. P <0.05 was taken to indicate a statistically significant difference. Correlational analysis was done by calculating the correlation coefficient.

Table 1 represented the distribution of cases according to sex. 66.34% of cases were males, whereas 33.66% of cases were females.

Table-1: Distribution of cases according to sex.

Fig-1 Showing distribution of patients according to Body Mass Index (BMI) (n=51).

Table-2: Showing distribution of patients according to Height for age (n=101).

Fig-02: Serum Calcium values in Thalassemic patients(mg/dl).

Table-06: Showing correlation of Hepatomegaly with transfusion index and different range of serum ferritin in all three groups.

Table-7: Showing correlation of different grades of splenomegaly with serum ferritin and transfusion index.

In patients with β-thalassemia, low bone marrow density and fractures occur frequently and independently of the particular syndrome. In less than 08 years, 16 (22.85%) cases had high i.e. hypercalcemia, 15 (21.42%) cases had low i.e. hypocalcemia and 39 (55.71%) cases were having normal levels of serum calcium. In greater than 08 years, 03 (9.67%) cases had hypercalcemia, 04 (12.90%) cases had hypocalcemia and 24 (23.76%) cases had a normal level of serum calcium. This showed that thalassemic patients who were less than 08 years of age were more hypercalcemic as compared to patients more than 08 years of age. Similarly, hypocalcemia was seen more in thalassemic patients below 08 years of age.

In 1-3 years, cases, 15 (60%) had low, 06 (24%) had high and 04 (16%) had a normal level of serum phosphorus. In 4-11years, 23 (36.50%) cases had low, 25 (39.68%) cases had high and 15 (23.80%) cases had normal serum phosphorus levels. In 12-14 years, the only single case had hypophosphatemia, 05 (38.46%) cases had high and 07 (53.84%) cases had a normal level of Serum Phosphorus [6,7,8,9].

The present study found 39 cases to have hypophosphatemia which account for 38.61%, which may be due to renal function derangements and abnormality of bone marrow turnover [10,11].

Renal profile of the patients showed almost 1/3^rd cases 31(30.69%) case had high levels of creatinine, rest were having normal levels. Serum urea was high in 65(64.35%) cases [12,13,14,15,16]. Though most of the urea and creatinine were only mildly elevated which may be due to chelator therapy in the higher age group.

In the present study, 50 patients of 1 to 5 years of age, 33(66%) patients showed hepatomegaly with the mean liver span of 8.86±3.14 cm. and mean serum ferritin 1584±1116. There was a positive correlation with serum ferritin concentration, transfusion index with respective correlation coefficients (r) of 0.167, 0.1552 and 0.478. Correlation of hepatomegaly with Transfusion index (p<0.0001) and was statistically significant. Mean serum ferritin found in 06 to 10 years age group was 2976+/-2211 and was also having p value 0.026.

In the present study, liver, span in patients of 1-5 years of age group was correlated significantly in serum ferritin levels less than 1000 ng/ml with transfusion index (p=0.0004) [17].