[Hemoglobinpathy S--clinical manifestations in children in a Zairian family]

Area of Science:

• Hematology
• Pediatrics
• Genetics

Background:

• Sickle Cell Disease (SCD) is a genetic blood disorder.
• It affects hemoglobin, the protein in red blood cells that carries oxygen.
• SCD is prevalent in populations of African descent.

Observation:

• A family from Zaire residing in Belgrade presented with Hemoglobinopathy S.
• Parents and two brothers were heterozygous carriers.
• Children experienced anemia, dyspnea, cyanosis, cough, and bone changes, with one child having vitamin D deficiency.

Findings:

• The youngest child, homozygous for the sickle cell gene, exhibited severe SCD.
• Manifestations included hand-foot syndrome, heterotopic paravertebral hematopoetic tissue, lung infarctions, and cardiomegaly.
• The homozygous child succumbed to severe hypoxia after multiple episodes.

Implications:

• This case underscores the severe clinical spectrum of sickle cell disease in children.
• Highlights the importance of genetic screening and management in affected families.
• Suggests potential interactions between SCD, vitamin D deficiency, and environmental factors.