Genetic Disorder Information
Balin- Pierre Robin Sequence
This video is a story about my son Balin (Bay-lin). Balin was born with a rare genetic disorder called “Pierre Robin Sequence/ Syndrome”. The aim of this presentation is raise awareness for PRS but also to inspire families of children with this and other life threatening conditions. Time is fleeting. Nothing stays the same. A hard day today, could be a monumentus day tomorrow. Dont give up. Reach out. Find the help you need and hold tight to your loved ones for tomorrows another day. For more information on Pierre Robin please contact Pierre Robin Australia Information Support and Education Inc on (03) 87511174, Melbourne, Australia or via email email@example.com. Thanks for watching. Mick (Balins Dad)
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Answer by matador 89
The signs and symptoms of sickle cell disease are caused by the sickling of red blood cells. People with this disorder have atypical haemoglobin molecules called haemoglobin S, which can distort red blood cells into a sickle, or crescent, shape. When red blood cells sickle, they break down prematurely, which can lead to anaemia. Anaemia 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. Haemoglobin consists of four protein subunits, typically, two subunits called alpha-globin and two subunits called beta-globin. Mutations in the HBB gene cause sickle cell disease. The HBB gene provides instructions for making beta-globin. Various versions of beta-globin result from different mutations in the HBB gene. One particular HBB mutation produces an abnormal version of beta-globin known as haemoglobin S (HbS). Other mutations in the HBB gene lead to additional abnormal versions of beta-globin such as haemoglobin C (HbC) and haemoglobin E (HbE). HBB mutations can also result in an unusually low level of beta-globin; this abnormality is called beta thalassemia.
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It is extremely important to obtain an accurate diagnosis before trying to find a cure. Many diseases and conditions share common symptoms.
The information provided here should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions.
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