Doctor insights on:
What Are The Different Types Of Hemoglobinopathies
Various: These relate to hemoglobin, the molecule that helps transport oxygen, and is made of 4 subunits. Adults have 2alpha & 2beta, while kids have 2alpha & 2gamma. Other minor forms also exist. Any disorder that alters these subunits can lead to hemoglobinopathy, some of which have no significance (d and e) and others that may (thalassemia & sickle cell). Read more
Trait vs disease.: Hemoglobinopathies are a variety of inherited diseases where the hemoglobin molecule (part of RBC that attaches to o2 which all cells need to live) is malformed. Examples are sickle cell & thalassemia anemia. Abnormal gene from one parent, usually have 'trait' and live healthy life. Gene from each parent, get the disease: infection, stress, a cold, other events can set off a crisis and instability. Read moreSee 1 more doctor answer
Depends on disease: Thalassemia and sickle cell disease are the two most common hemoglobinopathies. They both have very different symptoms. Thal patients may have symptoms of anemia like feeling tired and some may need life long blood transfusions. Sickle patients may have pain crisis, infections, chest crisis, strokes, chronic organ damage. Read moreSee 1 more doctor answer
Most so not: Most have altered hemoglobin in the form of "trait." Those individuals may only have small red cells but no anemia. However, patients who have full blown hemoglobinopathy are usually anemic. There are many forms of hemoglobinopathies... Such as thalassemia. Sickle cell disease vs trait is another type of altered hemoglobin. Read more
Hereditary anemia: Thalassemia is a type of hemoglobinopathy. It is inherited from one or both of your parents. There are many kind of thalassemia. Most causes anemia (low red blood cell count). Anemia couod be severe requiring blood. Taking iron does not cure the disease. Thalassemia is common in people living in the mediteranian countries, africa, middle east, india, and sotheastern asia such as thailand, laos, et. Read moreSee 1 more doctor answer
What does it mean if I'm a carrier of beta chain-related hemoglobinopathy and spinal muscular atrophy?
Carrier status: SMA is an autosomal recessive neuromuscular disease To be a carrier means you have one 5q deletion on chromosome 5. Beta chain hemoglobinopathy means you have an altered beta chain of hemoglobin as seen in diseases such as sickle cell. Carrier status means you do not have disease but have ability to pass it on to offspring who will have disease if other parent is carrier and passes it on as well. Read more
A 4 month old's hemoglobinopathy test is indeterminate. Mother is fa and father is aa (both normal). Is the baby atrisk?
Not likely: This is a bit unusual. In a condition known as hereditary persistence of fetal hemoglobin (hpfe) there is an elevated amount of fetal hemoglobin present. This is reported as af, as there is always more HGB a than f present, unless you have thalassemia trait as well. If mom is not anemic, shouldn't be a problem. Not sure what testing was done to demonstrate that dad is aa rather than a/thal though. Read moreSee 2 more doctor answers
I have a hemoglobinopathy (not sickle cell or thalassemia). At what point is medication considered for my anemia?
Symptoms or severe: Depends on specific etiology, as treatments may vary significantly. Generally aggressive tx like transfusions are avoided except in emergencies, but other tx will be considered if there are sxs (like dizziness, weakness, shortness of breath) or if the blood level is low enough to cause other issues (e.g., high-output heart failure). Diet may be important as well in minimizing or avoiding meds. Read moreSee 3 more doctor answers
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Is there a condition that causes people to mix letters up when typing, e.g. "how" as "hwo" or "ends" as "neds"? This has been happening ALOT!
Please Clarify: A low vitamin d level would not cause pain. I am unsure where your pain is or why you were taught that the vitamin d level would be the cause of it. Read more
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