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Sickle Cell Definition, Prevention, Consultation

Definition of SCD

Sickle cell disease is a genetic disorder, hereditary, characterized by abnormal hemoglobin in the red blood cells. The hemoglobin is to carry oxygen and abnormal sickle cell hemoglobin (hemoglobin S) prevents the cells to perform this function.

For a child to be reached by the disease, it is necessary that both parents have transmitted the S gene: it is then homozygous SS. In case of transmission of a single S gene (heterozygous patients AS), the child will not develop the disease but it may transmit to their offspring.

Screening and risk of SCD

In France, 300 SS homozygous sickle cell children were born in 2003. The geographical distribution is concentrated in Ile-de-France and the Caribbean.
The people carrying the sickle cell gene are mostly from sub-Saharan Africa, the Caribbean and North Africa.

Screening for sickle cell disease at birth has been generalized by the French Association for the detection and prevention of disability (AFDPH) and is targeted to infants whose parents are from "country risk".
Anti-infective treatments and education is now possible to handle the complications of sickle cell disease.

Causes and origins of sickle cell disease

To develop the disease and the symptoms of sickle cell disease, it is necessary to have both SS genes: this is called homozygous SS.
The patient homozygous hemoglobin SS is changed and when oxygen is scarce (cold, fever, dehydration, altitude), red blood cells change shape ("sickle"). They rigidify and become unable to circulate throughout the body, causing the occlusion of painful crises and premature destruction.

Signs and symptoms of sickle cell disease

Patients with only one abnormal gene S are asymptomatic.
If both genes are defective, the abnormal hemoglobin causes several symptoms. Anemia (low hemoglobin) is chronic because red blood cells are fragile: fatigue, yellow whites of the eyes are usually the only well tolerated signs.

However crises punctuate the evolution of the disease and are associated with red blood cells that form plugs in blood vessels: it is called "vasoocclusives crises." These crises affect the limbs (hands, feet), spleen (which can not fulfill its role antiinfection), but potentially all organs.

They are responsible for pain, redness members, increase the volume of the abdomen, fever ...
Bone and lung infections are the most frequent, especially in children under 3 years ssignes.
The frequency of attacks is very variable.

Sickle Cell Prevention

With what should we be confused?

Do not confuse "sickle cell trait" which means that the patient has sickle cell gene and sickle regards the holders of two genes. Only the latter are affected by sickle cell crises.

Will it possible prevention?

With relatives may be carriers of the sickle cell gene, genetic counseling can be offered for prenatal diagnosis during pregnancy.

With sickle cell disease proved (homozygous SS), preventive measures aimed at reducing the frequency of seizures. Cold exposure should be minimized (remain in the classroom at recess, after drying the pool ...). Sports and violent efforts are to be avoided, as all situations at risk of dehydration, altitude above 1500 m is prohibited (skiing holidays cons-indicated).

No special diet is recommended but drinks must be abundant.
Vaccinations (including pneumococcal) are to be followed scrupulously.
The school child will receive an individualized home Project (PAI) related to parents, teachers and doctors.

Sickle Cell Prepare consultation

When you consult?

Any fever above 38 ° C requires special vigilance and a medical consultation in case of pain, it is advisable to stay hydrated and take a pain medication until the medical consultation.
If you have chest pain, high fever, pallor important or unusual pain, immediate hospitalization is recommended (UAS Centre 15).

What does the doctor in case of sickle cell anemia?

Theoretically, the diagnosis is made ​​during the screening at birth. Consultation between the parents and the doctor (hematologist, pediatrician) can explain the disease, which manifests itself yet. An assessment is recommended during this first consultation with essentially a blood (red cells, blood group, G6PD assay, determination of iron, hemoglobin S research ...).
There is no treatment for the genetic cause of this disease. Treatment is symptomatic crisis (oxygen, analgesic against the pain ...). Blood transfusion is a resort of emergency deep anemia.

How to prepare my next visit?

Therapeutic education of parents is fundamental. Between visits, you must monitor the occurrence of fever or behavior changes (irritability, crying ...), first witnessed a vasoocclusive crisis.

Drugs against pain are given by the environment, but in case of high fever or abnormal reaction, a quick reference is needed. Identify triggering circumstances will better avoided.

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