sickle cell anemia محمد عمر محمد

sickle cell anemia

Sickle cell disease is a group of disorders that
affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People with this disorder have atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape.

Signs and symptoms of sickle cell disease usually begin in early childhood. Characteristic features of this disorder include a low number of red blood cells (anemia), repeated infections, and periodic episodes of pain. The severity of symptoms varies from person to person. Some people have mild symptoms, while others are frequently hospitalized for more serious complications.

The signs and symptoms of sickle cell disease are caused by the sickling of red blood cells. When red blood cells sickle, they break down prematurely, which can lead to anemia. Anemia can cause shortness of breath, fatigue, and delayed growth and development in children. The rapid breakdown of red blood cells may also cause yellowing of the eyes and skin, which are signs of jaundice. Painful episodes can occur when sickled red blood cells, which are stiff and inflexible, get stuck in small blood vessels. These episodes deprive tissues and organs of oxygen-rich blood and can lead to organ damage, especially in the lungs, kidneys, spleen, and brain. A particularly serious complication of sickle cell disease is high blood pressure in the blood vessels that supply the lungs (pulmonary hypertension). Pulmonary hypertension occurs in about one-third of adults with sickle cell disease and can lead to heart failure.
Therefore it is necessary to know its types

What are the symptoms of sickle cell anemia?

Symptoms of sickle cell anemia usually show up at a young age. They may appear in babies as early as 4 months old, but generally occur around the 6-month mark.

While there are multiple types of SCD, they all have similar symptoms, which vary in severity. These include:

excessive fatigue or irritability, from anemia
fussiness, in babies
bedwetting, from associated kidney problems
jaundice, which is yellowing of the eyes and skin
swelling and pain in hands and feet
frequent infections.
The pathological condition arises from a point mutation that affects the gene responsible for the beta-polypeptide chain in the hemoglobin fraction, so the sequence of nitrogenous bases in the gene responsible for this chain at the code number CTT (6). It becomes the code from GUA to GAA It is translated in the affected person to valine acid instead of glutamic It is noteworthy that the scientist, Lance Polling, whose doctor, Ahmed Zewail, won his chair at the California Institute of Technology Cal cal, was the first to indicate the cause of sickle cell anemia as a result of a hemoglobin imbalance. In 1956, the scientist discovered an astrology from the University of Cambridge in the amino acid sequence of hemoglobin, red blood cells.

But is there a cure?

Bone marrow transplantation, also known as stem cell transplantation, provides the only possible treatment for sickle cell anemia. It is usually performed for individuals under the age of 16 due to the increased risk for individuals above the age of 16. Finding a donor is difficult, and the process is very risky, including death.

As a result, treatment for sickle cell anemia is usually aimed at avoiding crises, relieving symptoms and avoiding complications. Infants and children 2 years of age and younger with sickle cell anemia should frequently see a doctor. Children over 2 years old and adults with sickle cell anemia should see a doctor once At least annually, according to the Centers for Disease Control and Prevention.

Rehydration with intravenous fluids helps red blood cells return to a normal state. The red blood cells are more likely to deform and assume the sickle shape if you’re dehydration.
Treating underlying or associated infections is an important part of managing the crisis, as the stress of an infection can result in a sickle cell crisis. An infection may also result as a complication of a crisis.
Blood transfusions improve transport of oxygen and nutrients as needed. Packed red cells are removed from donated blood and given to patients.

Written by mohamed Omar mohamed

انيميا الدم المنجلية ببساطة ان البروتين بيكون داخل فى تكوين الهيمو جلوبين غير سوى التركيب بمعنى أن شكله غير منتظم وبيكون شكل قرصى لذلك سمي هذا المرض  باسم انيميا الدم المنجلية. هذا المرض من الممكن يودى بحياة صاحبه فى سن مبكر اذا كان الجين موجود بصورة مزدوجة(homozygous ) .

حوالى 35% من خلايا الدم عندهم تحمل هيموجلوبين غير سوى وهذا الجين موجود على كروموسوم رقم 11 . جزء الهيموجلوبين عموما يتركب 4سلاسل من عديد 2منهم الفا فيهم 141 حمض امينى
واثنين بيتا فيهم 146 حمض امينى متصلان بمجموعة هيم

هذه الحالة المرضية تنشأ نتيجة طفرة نقطية تؤثر على الجين المسؤول عن سلسلة بيتا بولي ببتيد في جزء الهيموغلوبين ،

وبالتالي فإن تسلسل القواعد النيتروجينية في الجين المسؤول عن هذه السلسلة على رقم الكود CTT (6). يصبح الرمز من GUA إلى GAA. يُترجم في الشخص المصاب إلى حمض فالين بدلاً من الجلوتاميكي. من الجدير بالذكر أن العالم ، بولس بولينج ، الذي حصل طبيبه ، أحمد زويل ، على مقعده في معهد كاليفورنيا للتكنولوجيا كال ، أول من أشار إلى سبب فقر الدم المنجلي نتيجة لاختلال الهيموغلوبين. في عام 1956 ، اكتشف العالم علم التنجيم من جامعة كامبريدج في تسلسل الحمض الأميني من الهيموغلوبين ، خلايا الدم الحمراء.
بقلم/ محمد عمر محمد


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