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Doctor insights on: Hemoglobinopathy Evaluation

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What makes some hemoglobinopathies unstable?

What makes some hemoglobinopathies unstable?

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 more

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Dr. William Reed
32 Doctors shared insights

Hemoglobinopathies (Definition)

Hemoglobinopathies are disorders of hemoglobin synthesis susch as sickle cell disease and thalassemia. Most result in anemia of varying degrees, and can cause other problems depending on the type ...Read more


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Is there only one type of hemoglobinopathy?

Is there only one type of hemoglobinopathy?

No: There are several types of hemoglobinopathies including c disease, sc disease, sickle cell, and the different types of thalassemias. ...Read more

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What are the different types of hemoglobinopathies?

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

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Can people with hemoglobinopathy donate their blood?

Can people with hemoglobinopathy donate their blood?

Some can: For example, those with sickle cell trait can give but not sickle cell disease. For an extensive listing of doner information and qualifications go to www. Redcrossblood. Org ...Read more

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What makes some hemoglobinopathies unstable?

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 more

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What are some symptoms of hemoglobinopathies?

What are some symptoms of hemoglobinopathies?

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 more

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What is the definition or description of: hemoglobinopathies?

What is the definition or description of: hemoglobinopathies?

Hemoglobinopathies: Hemoglobinopathies are disorders of hemoglobin synthesis susch as sickle cell disease and thalassemia. Most result in anemia of varying degrees, and can cause other problems depending on the type of abnormal hemoglobin produced. ...Read more

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Hemoglobinopathies, do they require treatment?

Hemoglobinopathies, do they require treatment?

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

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What blood tests confirm the diagnosis of hemoglobinopathies?

What blood tests confirm the diagnosis of hemoglobinopathies?

Hbg electrophoresis: The usual approach is to perform a hemoglobin electrophoresis. On occasion other more esoteric specific testing may be required depending on the patient's manifestations and family history of known type. You should be seeing a hematologist. ...Read more

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What is the definition or description of: thalassemia and hemoglobinopathy?

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 more

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What does it mean if I'm a carrier of beta chain-related hemoglobinopathy and spinal muscular atrophy?

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

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A 4 month old's hemoglobinopathy test is indeterminate. Mother is fa and father is aa (both normal). Is the baby atrisk?

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 more

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I have a hemoglobinopathy (not sickle cell or thalassemia). At what point is medication considered for my anemia?

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 more

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What is a colposcopic evaluation?

What is a colposcopic evaluation?

Microscope: Basically we look at your cervix thru a special kind of microscope, and if we see anything that stands out, may collect a little tissue from that area for testing.
Usually not very painful but not a bad idea to take 800 mg of Ibuprofen 1-2 hrs beforehand and ask whether your gyn might use a local anesthetic if a biopsy is needed which we have started doing and the patients prefer. ...Read more

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Can I get pregnant not only with evaluation?

Question unclear: You can get pregnant any time you desire if you are capable and have the rightr partner. ...Read more

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What evaluation do I need for a curved spine?

What evaluation do I need for a curved spine?

Xray curved spine: A two view x-ray will generally show the degree of abnormal curvature. An orthopedic or neurosurgeon will then be able to tell if surgery is needed. ...Read more

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How do I get a workplace evaluation for ergonomics?

How do I get a workplace evaluation for ergonomics?

Your doctor may help: It's not uncommon for a physician to request a workplace evaluation for ergonomics: to see if your workspace may be modified to better "fit" your body and prevent injuries. If it's a large company, there may be a physical therapist in the company who does these evaluations. Ask your doctor. Good luck. Lgromkomd. ...Read more

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Anyone know what is a toric contact lens evaluation?

Anyone know what is a toric contact lens evaluation?

An exam: Toric contacts are soft (usually) contact lenses that correct for astigmatism. Such an evaluation is just an exam to see if those lenses would be good for you. ...Read more

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What is involved in the medical evaluation of nocturia?

What is involved in the medical evaluation of nocturia?

Determine Etiology: Nocturia may be a symptom of a primary sleep disorder, inappropriate ADH (vasopressin) secretion, diabetes, end stage kidney disease, bladder outlet obstruction with incomplete emptying of the bladder, a spinal cord or central nervous system disorder, bladder infection or inflammation just to name a few. A check up with your doctor and a urologist should be able to identify the problem fairly easily. ...Read more

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Should a bite evaluation be done on a newly crowned tooth?

Should a bite evaluation be done on a newly crowned tooth?

The goal is: For the bite to feel the same as it did prior to the placement of the crown / inlay / onlay / filling. The bite should always be checked after the placement of the restoration. With that said, sometimes the patient might need to return for a bite adjustment after the patient has been functioning on the tooth. The anesthesia during the procedure could skew the patients perception at the time. ...Read more

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