Blood is a connective tissue, which performs several of import maps in our organic structure. It is indispensable in keeping our lives. Blood is involved in the transportation of O and C dioxide among our organic structure cells, keeping our organic structure temperature, presenting foods and waste merchandises inside our organic structure and besides involved in our unsusceptibility system. The four chief constituents of blood are ruddy blood cells, white blood cells, plasma, and thrombocytes. Plasma is the major constituent of blood, approximately 55 % of the blood. Red blood cells, which constitute about 44 % of whole blood are responsible in providing O to organic structure cells. Platelets and white blood cells are taking up less than 1 % of blood ( The University Of Sidney, 2010 ) . Normal ruddy blood cells are concavo-concave disc-like form. Oxygen is transported throughout the organic structure by adhering to the haemoglobin of ruddy blood cells. Hemoglobin is a quaternate protein which consists of four iron-containing sites for the O to adhere with it ( Anglin, M.R. , 2012 ) . Sickle cell disease is a blood related upset. It is besides an familial familial disease. It affects the haemoglobin molecule in the ruddy blood cells. The unnatural haemoglobin cause the ruddy blood cells to be stiff and losing its biconcave disc-like form. Affected red blood cells are shaped like reaping hooks or semilunar Moons ( Familydoctor.org, 2011 ) . Sickle Cell Disease
Picture 1: Shape of reaping hook ruddy blood cell and normal ruddy blood cell ( National Human Genome Research Institute, 2010 ) .
Millions of people throughout the universe are affected by reaping hook cell anaemia. This disease is peculiarly common among African, Spanish, Mediterranean, and Indian ascestry ( Health U.S.News, 2010 ) . As reaping hook cell anaemia is a genetically familial disease, there are about 7 % of the universe population are bearers of this disease. 300,000-400,000 kids affected by this disease are born every twelvemonth ( Roberts I. , 2007 ) . The Centers for Disease Control and Prevention estimated that about 90,000 to 100,000 of Americans are being affected by reaping hook cell anaemia. About every 500 Afro-american babe born, one of them was affected by this disease ( Centers for Disease Control and Prevention, 2011 ) . Among the Americans, more than 2 million people have sickle cell trait while among African americans, in every 12 people, one of them is the bearer of the reaping hook cell cistron ( National Heart, Lung, and Blood Institute, 2012 ) .
The reaping hook cell cistron may be inherited by the following coevals. The form of heritage of reaping hook cell cistron is called autosomal recessionary heritage. The kid would be affected by reaping hook cell disease when both of the parents passed the reaping hook cell cistron to the kid. On the other manus, when merely one of the parents passed this cistron to the kid, the kid will hold the reaping hook cell trait. The kid with reaping hook cell trait will bring forth both normal haemoglobin and reaping hook cell haemoglobin. This kid is considered as a bearer for this disease ( Mayo Clinic, 2011 ) . Although reaping hook cell disease can non be prevented as the cause of this disease is the cistron, parents can make prenuptial medical examinations to cognize their opportunities of holding a kid with reaping hook cell disease before holding a babe. If both parents have sickle cell traits, there is a 25 % opportunity for their kid to hold sickle cell disease. The opportunity for the kid to hold this disease will increase to 50 % if one of the parents has this disease while another parent is a bearer for reaping hook cell cistron. The kid will non be affected by reaping hook cell disease if merely one of the parents has sickle cell disease or is a bearer for this disease while another parent is normal ( WebMD, 2010 ) .
Sickle cell disease is caused by the structural abnormalcies of haemoglobin due to the mutant in 6th place of & A ; Icirc ; ?-globin concatenation cistron. The glutamic acid codon is substituted by a valine codon ( Micheal W.K. , PhD, 2013 ) . The mutant of this cistron will do the production of sickle haemoglobin. The deoxygenated signifier of sickle haemoglobin is capable reversibly polymerising with other sickle haemoglobin molecules. These polymers will falsify the ruddy blood cell into an extended reaping hook form. The sickling of ruddy blood cell is ab initio reversible upon reoxygenation. However, after several repeated episodes of sickling, the membrane of the ruddy blood cell will be damaged and do the doomed of K+ ions and H2O of the ruddy blood cell. The ruddy blood cell will finally go stiff and reversible reaping hook form. The life span of reaping hook cells is about 20 yearss which is much more shorter than the normal ruddy blood cells which have life span of 120 yearss ( Alvin H. and Schmaier L.M. , 2003 ) .
The patients with sickle cell disease might endure assorted symptoms. Some are mild while some are terrible. Some mild symptoms including weariness, shortness of breath, giddiness, concern, coldness in custodies and pess, pale skin coloring material, and chest hurting. Among all these mild symptoms of reaping hook cell disease, weariness is the most common symptom that suffer by the patients ( National Marrow Donor Program, n.d. ) . Severe symptoms include chronic anaemia, acute hurting episodes, shot, leg ulcer and many other symptoms. As the life span of reaping hook cells ( 20 yearss ) is much shorter than normal ruddy blood cells ( 120 yearss ) , the reaping hook cells die prematurely ensuing in a chronic deficit of ruddy blood cells to present O to the whole organic structure. Beyond that, sickle cells besides have lower affinity to O. The deficit of ruddy blood cells and the low affinity between reaping hook cells and O could besides do utmost weariness, shortness of breath, giddiness, and delayed growing and development in kids ( Health U.S.News, 2010 ) . Sickle cells might be stuck in little blood vass doing obstructor in blood flow. This will finally take to sudden, periodic painful crises and tissues harm. The occur of leg ulcer is due to ischemia which will finally take to mortification ( Alvin H. and Schmaier L.M. , 2003 ) .Sickle Cell Anemia
Picture 2: The flow of sickle cells and normal ruddy blood cells in blood vas ( MedIndia, n.d. ) .
The lone remedy for reaping hook cell disease is bone marrow organ transplant but as we all known, it is hard to happen a matched giver and merely little figure of patient could hold the opportunities to hold this surgery ( Hartree N. , Dr. , 2012 ) . Besides that, there is besides some other interventions available to cut down the consequence suffered by patients. Therapy for crises such as hydration and hurting medicine can be used to cut down the grade of hurting suffered by patients. While in some terrible instances, blood transfusion could be done in order to increase the figure of normal ruddy blood cell when the organic structure has no plenty ruddy blood cells to provide O to the whole organic structure. Apart from that, hydroxyurea, a medicine which can increase the production of foetal haemoglobin can besides be used. This drug will do the organic structure to bring forth foetal haemoglobin, which is the haemoglobin produced by babe inhibits the polymerisation of sickle haemoglobin. This will finally cut down the frequence of acute painful crises and the patient taking this medical specialty would non hold to trust on blood transfusion as they have more ruddy blood cell to transport O to other portion of their organic structure ( Alvin H. and Schmaier L.M. , 2003 ) .
As a decision, reaping hook cell disease is an familial familial disease that can non be prevented and difficult to be remedy as the lone remedy is bone marrow organ transplant. However, there are besides other interventions that could assist to cut down the suffer of the patients. Prenuptial medical examination is besides an of import manner to foretell the possibility of the babe to be affected by reaping hook cell disease. The kid that is affected by reaping hook cell disease should be looked after carefully. Sickle cell disease is non a fatal disease if the right intervention is being taken. Be cognizant of the organic structure status and seek for physician adviser if any of these symptoms showed.