Pattern and clinical profile of thalassemia among pediatric patients attending the Yemeni Society Centers for Thalassemia and Genetic Blood Disorders in Yemen

Background
Thalassemia is a type of inherited anemia. Its management is complex and expensive, and requires a multiple-team approach. Optimal and sufficient clinical care is demanding.
Aim
The aim of this study was to determine the magnitude, sex and age distribution, clinical profile, complications, investigation, and management of transfusion-dependent β-thalassemia major among Yemeni pediatric patients attending the Yemeni Society Centers for Thalassemia and Genetic Blood Disorders in Yemen as, to our knowledge, no similar previous study has been carried out in Yemen.
Patients and methods
This was a prospective, cross-sectional, descriptive study carried out during the period from January 2015 to December 2016. A total of 109 Yemeni pediatric transfusion-dependent β-thalassemia major patients who attended the Yemeni Society Centers for Thalassemia and Genetic Blood Disorders in Yemen were included. Detailed assessment of history, clinical examination, investigations, treatment, and follow-up were performed for every patient. The data were collected from the medical records of the patients.
Results
There was a slight male predominance (53.2%), with a male to female ratio of 1.14 : 1. Approximately 33% of the patients were in the age group 7–10 years, followed by the age group 3–6 years. The mean age of the cases was 7.68±5.8 years. Positive parent consanguinity was present (74.2%) and the majority (64.2%) were first-degree relatives. The best outcome of thalassemia was among those patients 1.7 years old or younger at the time of diagnosis and those patients 2 years old or younger at first blood transfusion. Earlier initiation of chelating therapy yielded better outcomes and reduced the mortality rate with a highly statistically significant difference. The usage of a combination of both oral chelation and subcutaneous iron chelation (iron pump) therapies led to a noticeably better outcome and reduced the mortality rate markedly. A proportional relation was detected between serum ferritin level and mortality among the cases, with a statistically significant difference. The complication rate was high (40.2%). The mortality rate was also high (27.5%). Cardiac dysfunction was the major risk factor of death among our thalassemic patients as about 60% of the deaths were because of cardiac complications, with a highly statistically significant difference.
Conclusion
Increasing awareness of the morbidity and mortality of transfusion-dependent β-thalassemia major among pediatric Yemeni patients, with an emphasis on the great importance of premarital screening before marriage in Yemen, is mandatory. For better outcomes, routine investigations to detect early complications with proper treatment of the predisposing factors and complications are necessary.