Rare anemias in adolescents

Area of Science:

• Hematology
• Genetics
• Rare Diseases

Background:

• Anemia can stem from nutritional deficits or underlying diseases, with genetic factors becoming apparent in adolescence.
• Rare anemias (RA) are a heterogeneous group of rare diseases (RD) where anemia is the primary clinical sign, often presenting in adolescence.
• RA are characterized by low prevalence (<1 in 10,000) and complex mechanisms, leading to delayed or missed diagnoses.

Purpose of the Study:

• To highlight the diagnostic challenges and clinical significance of rare anemias in adolescents.
• To emphasize the importance of physician knowledge regarding the natural history of genetic diseases for timely diagnosis and management.
• To underscore the anxiety and uncertainty faced by adolescent patients and families due to undiagnosed or misdiagnosed rare anemias.

Main Methods:

• Review of the clinical presentation and etiological factors of rare anemias.
• Analysis of diagnostic delays and misdiagnoses, particularly with iron deficiency anemia.
• Discussion of the genetic basis and inheritance patterns of rare anemias.

Main Results:

• Over 80% of rare anemias are hereditary.
• Approximately 20% of rare anemias remain undiagnosed, often being misdiagnosed as iron deficiency in childhood or adolescence.
• Delayed diagnosis prevents understanding of prognosis and genetic counseling.

Conclusions:

• Rare anemias represent a significant clinical and social health issue globally.
• Increased physician awareness and knowledge of rare anemias are essential for accurate diagnosis and effective patient care.
• Timely diagnosis and genetic counseling are critical for managing rare anemias and supporting affected families.