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What is G6PD deficiency? Glucose-6-phosphate dehydrogenase deficiency, or G6PD deficiency for short, is the most common “inborn metabolic disorder” in the world. This means that from the time a baby is born, thre is already something wrong with how his body makes and breaks important substances. According to statistics, about 400 million people have G6PD deficiency, and it is most common in Africa, Southeast Asia and the Middle East.Babies with G6PD deficiency have very little or no enzyme called Glucose-6-Phosphate Dehydrogenase (G6PD). An enzyme is a kind of protein that speeds up chemical reactions in the body. The enzyme G6PD is especially important to red blood cells. If this enzyme is lacking or missing, red blood cells are easily destroyed. Another name for G6PD deficiency is favism because some people who have it, usually those living in the Meditteranean region, react very badly to fava beans. All normal human beings have 23 pairs of chromosomes. Each of the first 22 pairs contain the same number and kind of genes. The last and 23rd pair is the sex chromosomes. They are different from the first 22 pairs in that they do not have the same number and kind of genes. The sex chromosomes contain the genes that determine whether a baby will be a girl or a boy. There are 2 kinds of sex chromosomes, X and Y. All baby girls have two X chromosomes. All baby boys have one X and one Y. The gene that gives instructions on how G6PD is made is found in the X chromosome only, thus G6PD deficiency is described as X-linked. If a baby girl gets one defective G6PD gene from either of her parents, she will not have G6PD deficiency because she has another G6PD gene that can do the work (remember: a baby girl has two X chromosomes, thus two G6PD genes). But if she gets two defective G6PD genes from both her parents, she will have G6PD deficiency. On the other hand, a baby boy whose G6PD gene is defective will surely get G6PD deficiency because the Y chromosome has no G6PD gene. G6PD has a very small but strategic role in protecting the body from substances that can cause damage to cells or oxidative substances. Because of this important role, G6PD is normally found in all parts of the body. To be sure, most parts of the body also keep a “spare” enzyme, one that can do the work of G6PD in case it is lacking or missing entirely. Unfortunately, this is not the case with red blood cells. They do not have spare enzymes that can do the work of G6PD. If a baby does not have enough G6PD, his red blood cells lack protection from the harmful effects of oxidative substances. A baby with G6PD deficiency appears and remains healthy until he is exposed to a large amount of oxidative substances. When this happens, his red blood cells are destroyed, a process known as hemolysis. Red blood cells carry oxygen to all parts of the body. When they undergo hemolysis, the baby will have hemolytic anemia. The signs and symptoms of hemolytic anemia are paleness, dizziness, headache, tea-colored urine, and abdominal or back pain or both. Hemolytic anemia, when very severe, can end in death. Destroyed red blood cells are brought to the liver to be broken down to smaller pieces for disposal. One of the end products of this process is bilirubin, a yellowish substance that accumulates in different parts of the body when too much of it is produced. Quite often, bilirubin accumulates in the skin and causes it to appear yellowish. In the worst cases, biliribin accumulates in the brain and causes mental retardation or death. Where do oxidative substances come from? Hemolysis of red blood cells will only occur IF and WHEN a G6PD deficient child is exposed to oxidative substances. Oxidative substances are found in certain drugs, foods, and beverages. The body also produces oxidative substances during severe infections or illnesses such as typhoid fever, pneumonia, or kidney failure. Most drugs with strong oxidative effects are of kinds: 1. Antibiotics of the sulfa group. 2. medicines for malaria. 3. some medicines for fever. When a child has taken oxidative substances and suddenly shows the signs and symptoms of hemolytic anemia, he is said to have a hemolytic crisis. During such crisis, the goal of doctors and nurses is to prevent the harmful effects from getting worse. Blood transfusion, oxygen, and folic acid may be given.
Dr. Girish Dahake8 Likes16 Answers - Login to View the image
sir i have 5 renal stones in kidney and 8mm stone in left VUJ last night i have suffered from 7 hour of severe pain sir what i have to do please guide me
Ahmed Latiwala3 Likes27 Answers - Login to View the image
Please Identify the plant.... Most commonly used in Mutra Vaha Sroto Gata Roga....
Dr. Hemant Adhikari4 Likes25 Answers - Login to View the image
A 71 years old male patient complaining, pain abdo, difficulty in urination, urgency to urinate, frequently at night, dysuria, fever,constipation, xerostomia, sometimes patient feels severe abdominal pain at UR and also supra pubic region, orthopnoea too. Edematous at lower limbs. O/E BP 160/100mmHg HB 68bpm Chest B/L clear AS/ tenderness CVS s1 & s2 clear DM° What will be the proper investigations and the management......? Cystourethroscopy prostetic biopsy CBC RFT & other important haematological investigations also have been advised ECG reports show LBBB suggest me soon respected doctors
Dr. Maqusud Ansari6 Likes16 Answers - Login to View the image
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Dr. Mohammed Parvez8 Likes20 Answers