Sickle cell anemia in Rio de Janeiro, Brazil: demographic, clinical and laboratory data

Area of Science:

• Hematology
• Genetics
• Clinical Medicine

Background:

• Sickle cell anemia is a significant global health concern.
• Understanding its clinical manifestations is crucial for patient management.
• Regional variations in disease presentation require specific investigation.

Purpose of the Study:

• To characterize the clinical features of sickle cell anemia in a Brazilian cohort.
• To identify prevalence of specific complications and demographic factors.
• To analyze sex-based differences in disease expression.

Main Methods:

• Retrospective analysis of 409 sickle cell anemia patients in Rio de Janeiro.
• Data collection on onset, manifestations, development, crises, laboratory results, and mortality.
• Statistical correlation of clinical findings and demographic data.

Main Results:

• Low frequencies observed for bone lesions (12-18%), gnathopathy (4%), adult splenomegaly (4%), and abnormal ECGs (16%).
• Bone infarctions and osteomyelitis showed significant correlation, with osteomyelitis increasing with age.
• Significant sex differences in crisis types: males reported more chest pain, females more bone/joint pain and splenic sequestration.

Conclusions:

• The Rio de Janeiro sickle cell anemia cohort exhibits distinct clinical patterns, notably lower bone lesion frequencies.
• Age and sex are significant factors influencing disease presentation and complications in sickle cell anemia.
• Further research into regional variations of sickle cell anemia is warranted.