Heart Failure
These include, among others: Dyspnea ( exertional-, dyspnea at rest, orthopnea, paroxysmal nocturnal dyspnea); Fatigue, inadequate exhaustion after stress, weakness, lethargy[flexikon.doccheck.com]
The actuarial survival rates of persons who are homozygous for the mutation of the hemochromatosis gene C282Y have been reported to be 95%, 93%, and 66%, at 5, 10, and 20[doi.org]
[…] hemochromatosis or with lifetime transfusion requirements as seen in beta-thalassemia major. 176 Hereditary hemochromatosis, an autosomal recessive disorder, is the most common hereditary[doi.org]
Congestive Heart Failure
Initially dyspnea occurs only at exertion. Later on orthopnea and paroxysmal nocturnal dyspnea also develop. Later on dyspnea occurs even at rest.[symptoma.com]
The actuarial survival rates of persons who are homozygous for the mutation of the hemochromatosis gene C282Y have been reported to be 95%, 93%, and 66%, at 5, 10, and 20[doi.org]
When congestive heart failure worsens, fluid backs up into the lungs and interferes with oxygen getting into the blood, causing dyspnea at rest and at night (orthopnea).[emedicinehealth.com]
Hemolytic Anemia
A resting tachycardia with a flow murmur may be present if the anemia is pronounced.[aafp.org]
We herein report the assessment of glycemic control in a 41-year-old man with dehydrated hereditary stomatocytosis and a PIEZO1 gene mutation complicated by diabetes mellitus[ncbi.nlm.nih.gov]
The patient may complain of dyspnea or fatigue (caused by anemia). Dark urine and, occasionally, back pain may be reported by patients with intravascular hemolysis.[aafp.org]
Hemochromatosis-related Cardiomyopathy
There are five useful clinical signs to establish the presence and severity of cardiomyopathy: general appearance (cachexia and dyspnea at rest indicate severe impairment)[clevelandclinicmeded.com]
Classic hereditary hemochromatosis is caused by mutations of the HFE gene.[rarediseases.org]
Gene assay is diagnostic of hereditary hemochromatosis caused by HFE gene mutations.[merckmanuals.com]
Massive Hepatic Necrosis
Clinical Course: He was treated medically for his chronic congestive heart failure, but con- tinued to have chest pain, hemoptysis, and dyspnea even at rest, and developed[nap.edu]
Metabolic Disorders Hemochromatosis Hereditary hemochromatosis Mutations involving hereditary hemochromatosis gene HFE Unrestricted re-absorption of iron in the small intestines[slideshare.net]
Restrictive Cardiomyopathy
There are five useful clinical signs to establish the presence and severity of cardiomyopathy: general appearance (cachexia and dyspnea at rest indicate severe impairment)[clevelandclinicmeded.com]
Cardiac Hemochromatosis Hereditary hemochromatosis (HH) is caused by increased absorption of dietary iron, which accumulates in various organs, leading to their dysfunction[circres.ahajournals.org]
Several mutations in genes involving iron absorption and metabolism can cause HH and influence clinical manifestations, severity of disease, and response to therapy.[circres.ahajournals.org]
Congenital Absence of Ductus Arteriosus
[…] rate) Cyanosis (a blue-ish skin color due to a lack of oxygen), primarily affecting the lower extremities Dyspnea (shortness of breath) Poor feeding Weight loss Failure to[verywell.com]
Mutations of this gene are known to be associated with hereditary juvenile hemochromatosis ( 17, 18 ).[spandidos-publications.com]
[…] result in more significant symptoms, including: Lethargy and weakness Fast or labored breathing Bounding (very strong) pulse Tachycardia (a heart rate exceeding the normal resting[verywell.com]
Familial Isolated Dilated Cardiomyopathy Type 2A
There are five useful clinical signs to establish the presence and severity of cardiomyopathy: general appearance (cachexia and dyspnea at rest indicate severe impairment)[clevelandclinicmeded.com]
Return to Testing Services Hereditary Hemochromatosis Hereditary hemochromatosis is an autosomal recessive disorder.[cheo.on.ca]
[…] mitral valve cusp towards the septum LVOT pressure gradient via doppler echocardiography Provocation tests (see below) are obligatory if no obstruction is discernible at rest[amboss.com]
Alpha-Thalassemia - Myelodysplasia Syndrome
It is evaluated at 100-percent for hemoglobin of 5gm/100ml or less, with findings such as high-output congestive heart failure or dyspnea at rest.[federalregister.gov]
Hereditary hemochromatosis : Aetna considers genetic testing for HFE gene mutations medically necessary for persons who meet all of the following criteria: Member who has[aetna.com]
It is evaluated at 70-percent for hemoglobin of 7gm/100ml or less, with findings such as dyspnea on mild exertion, cardiomegaly, tachycardia (100 to 120 beats per minute)[federalregister.gov]
Familial Hypertrophic Cardiomyopathy 11
Rest echocardiogram did not show evidence of LVOTO.[journals.lww.com]
Return to Testing Services Hereditary Hemochromatosis Hereditary hemochromatosis is an autosomal recessive disorder.[cheo.on.ca]
Two uncles of the index patient (IV-4 and IV-5) showed very similar clinical pictures: they both suffered from exertional dyspnea, had permanent atrial fibrillation, and hypertrophic[journals.lww.com]