Sickle cell/beta-thalassemia in North Jordan

Area of Science:

• Hematology
• Genetics
• Clinical Medicine

Background:

• Sickle cell/beta-thalassemia (SB0 and SB+) is a hemoglobinopathy with variable clinical presentations.
• Understanding the hematological differences between SB0 and SB+ is crucial for patient management.
• The role of fetal hemoglobin (HbF) in ameliorating disease severity in these conditions requires further investigation.

Purpose of the Study:

• To investigate the clinical and hematological features of 50 patients with sickle cell/beta-thalassemia (SB0 or SB+).
• To compare hemoglobin levels (HbF, HbS, HbA2) between SB0 and SB+ genotypes.
• To explore the heterogeneity within sickle cell/beta-thalassemia subtypes and its impact on clinical severity.

Main Methods:

• Retrospective analysis of clinical data from 50 patients diagnosed with sickle cell/beta-thalassemia.
• Hematological assessment including total hemoglobin, HbF, HbS, and HbA2 levels.
• Clinical severity evaluation and correlation with specific hematological parameters.

Main Results:

• No significant difference in total hemoglobin values was observed between SB0 and SB+ types.
• SB0 patients exhibited significantly higher HbF and HbS levels compared to SB+ patients.
• SB0 patients showed lower HbA2 levels than SB+ patients.
• One SB0 case with very high HbF (32%) presented with severe clinical symptoms, indicating HbF does not always ameliorate severity.

Conclusions:

• Significant hematological differences exist between SB0 and SB+ sickle cell/beta-thalassemia, particularly in HbF, HbS, and HbA2 levels.
• The clinical course of sickle cell/beta-thalassemia can be severe even with high HbF levels, underscoring disease heterogeneity.
• Family studies are essential for differentiating SB0 from sickle cell disease.