Sickle cell disease is one of the most common monogenic diseases in the world with an approximated 7% of the world heterozygous carriers resulting in 300,000 newborns with severe hemoglobinopathies. It is an autosomal blood disease that causes the sickling of red blood cells. This sickle shape can lead to the development of cerebrovascular disease as well as cognitive impairment in children. If left untreated, it may also result in damage to organs such as the brain, kidneys, lungs, bones, and cardiovascular system. The sickling of red cells is caused at the sixth codon for the beta globin gene where glutamine is substituted for valine and has 900 different variants, most of which are not clinically significant. The sickling of these cells occurs due to a mutation in the hemoglobin gene and affects the ability of the hemoglobin to bind and release oxygen. This mutation results in crystallization that produces a polymer nucleus which grows and fills the cells, in turn disrupting the flexibility of the cell and causing dehydration. This can lead to a number of various complications, including a shortened life expectancy.
Sickle cell disease occurs in approximately 1 out of every 2500 newborns with black and Hispanic infants representing the majority. In infants, HbF is the major gene involved in determining the severity of the disease. Individuals who presented with a higher level of HbF generally had milder symptoms and fewer complications. Diagnosis of this disorder is based on the determination of variants of hemoglobin. Several newborn screening methods are currently being practiced; mainly isoelectric focusing and high performance liquid chromatography.
Check out this video for an animation of the sickle cell mutation in the blood.
Nice video!
ReplyDeleteGreat information about sickle cell disease Eden!! When I was taught about sickle cell, I only knew that it affected mostly the African-American population. I had no idea that Hispanics were affected greatly as African-Americans. During high school, I can remember an upperclassmen who was diagnosed with sickle cell and he would be in excruciating pain daily. There were times when faculty and staff would have to call 911 and he would be hospitalized. I knew not the cause of why he was in pain until now. Being a medical technology student, has broaden my understanding why people who have been diagnosed with sickle cell disease experience a crisis of pain and have to be hospitalized for therapy.
ReplyDeleteSickle cell is a very common disease. My cousin’s daughter was diagnosed with sickle cell as a newborn. Luckily, the doctor ran screening tests to determine the disease state. It is likely that my baby cousin has had mild to no symptoms of her sickle cell due to the higher levels of HbF. This information was useful because I never knew that sickle cell disease affects people from mild to severe symptoms. I’m very happily that my baby cousin didn’t have the severe symptoms that cause cerebrovascular disease with cognitive impairment that some children with sickle cell have to endure.
ReplyDeleteGreat information about Sickle cell disease. i really enjoyed a video. After learning about this disease, i realise how actually painful it is and thinking about thoes who diagnosed with the disease have to have necessity of blood transfusion every few weeks is even more painful!!
ReplyDeleteVery insightful information on sickle cell disease. The video is able to give a glimpse of all the damage that can result from the disease.
ReplyDelete