Splenic calcifications in heterozygote sickle cell patients

Area of Science:

• Hematology
• Genetics
• Radiology

Background:

• Sickle cell disease (SCD) is characterized by vaso-occlusive crises and organ damage.
• A small, fibrotic, and calcified spleen is a common hallmark in adult homozygote SCD.
• Splenic calcifications are rare in sickle-beta+-thalassemia and previously unreported in sickle cell trait.

Observation:

• Two siblings with heterozygous sickle cell conditions were found to have splenic calcifications.
• One sibling had sickle cell trait (AS).
• The other sibling had sickle-beta+-thalassemia.

Findings:

• The presence of splenic calcifications in individuals with sickle cell trait and sickle-beta+-thalassemia is a novel observation.
• These findings occurred without a history suggestive of splenic vaso-occlusive-infarctive crisis.
• This challenges the established understanding of splenic pathology in sickle cell disorders.

Implications:

• Splenic calcifications may indicate subclinical splenic damage in milder forms of sickle cell disorders.
• Further research is needed to understand the mechanisms and clinical significance of splenic calcifications in sickle cell trait and thalassemia.
• This may prompt re-evaluation of splenic monitoring in patients with non-homozygote SCD genotypes.