Defining the phenotypes of sickle cell disease

Area of Science:

• Hematology
• Genetics
• Clinical Medicine

Background:

• Sickle cell gene mutation leads to pleiotropic effects, causing multiple phenotypic expressions in sickle cell disease (SCD).
• The severity and occurrence of SCD complications exhibit significant variability among patients and over an individual's lifetime.
• Understanding these varied complications is vital for accurate diagnosis and treatment.

Purpose of the Study:

• To review and define the specific complications associated with sickle cell disease.
• To provide a clear understanding of phenotypic manifestations based on current literature and expert hematologist experience.
• To facilitate improved communication and targeted interventions for SCD.

Main Methods:

• Literature review of scientific evidence.
• Compilation of expert hematologist experience.
• Analysis of phenotypic expressions and their age-specific occurrences.

Main Results:

• Sickle cell disease complications are diverse and age-dependent, with some prevalent in childhood (e.g., dactylitis, stroke) and others in adulthood (e.g., leg ulcers, renal failure).
• The phenotypic manifestations can change over time within the same patient.
• Accurate definition of these complications is essential for clinical practice.

Conclusions:

• Sickle cell disease is characterized by a wide spectrum of complications stemming from a single gene mutation.
• Precise phenotyping of sickle cell disease complications is necessary for effective patient care and research.
• This review aims to standardize the understanding of SCD-specific complications.