Sickle-cell disease classification

Sickle-cell disease Microchapters
Home
Patient Information
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Sickle-cell disease from other Diseases
Epidemiology & Demographics
Risk Factors
Screening
Natural History, Complications & Prognosis
Diagnosis
History & Symptoms
Physical Examination
Laboratory Findings
X Ray
CT
MRI
Echocardiography or Ultrasound
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
Future or Investigational Therapies
Case Studies
Case #1
Sickle-cell disease classification On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of Sickle-cell disease classification All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
National Guidelines Clearinghouse
NICE Guidance
FDA on Sickle-cell disease classification
CDC on Sickle-cell disease classification
Sickle-cell disease classification in the news
Blogs onSickle-cell disease classification
Directions to Hospitals Treating Sickle-cell disease
Risk calculators and risk factors for Sickle-cell disease classification

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Cafer Zorkun, M.D., Ph.D. [2] Aarti Narayan, M.B.B.S [3]

Overview

Several other forms of sickle syndrome occur as a result of inheriting one sickle cell gene from one parent and another hemoglobinopathy from another parent. However, the sickle cell anemia is autosomal recessive.

Classification

Sickle cell syndrome includes:

• Sickle-cell anemia
  • Patients who have sickle cell disease who inherit one copy of sickle cell gene from each parent
• Sickle-hemoglobin C disease (Hb SC)
  • These patients with symptoms of sickle cell disease inherit one copy of sickle cell gene from one parent and defective hemoglobin C from another parent
• Sickle β thalassaemia (HbS β thalassaemia)
  • These patients with sickle cell disease inherit one copy of sickle cell gene from one parent and another copy of β thalassaemia gene
  • There are two types of HbS β Thalassaemia: '0' and '+'
    • HbS β 0 Thallasaemia: more severe form of SCD
    • HbS β + Thallasaemia: milder form of SCD
• HbSD, HbSE, and HbSO
  • These patients inherit one copy of sickle cell gene and another copy of abnormal hemoglobin.

The term "disease" is applied here since the inherited abnormality causes a pathological condition that can lead to death and severe complications. Not all inherited variants of hemoglobin are detrimental, a concept known as genetic polymorphisms. Hemoglobin is one of the best-characterized proteins in terms of inherited variants; some variants manifest as severe thalassaemia, such as beta-zero-thalassaemia, and other variants manifest as a milder thalassaemia, such as beta-plus-thalassaemia.