Term
| Hemochromatosis is an inborne error in __ metabolism. There is __ absorption of iron from the diet. Iron __ occurs and eventually leads to __ and __ __. __, __, __, and ___ occur. |
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Definition
- iron
- increased
- overload
- fibrosis and organ failure
- Cirrhosis
- Cardiomyopathy
- Diabetes
- Hypogonadism |
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Term
| possible results of iron overload with hemochromatosis: |
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Definition
- fibrosis
- organ failure
- Cirrhosis
- Cardiomyopathy
- Diabetes
- Hypogonadism |
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Term
| Hereditary Hemochromatosis is an __ __ disorder. These patients have the __ aka __ gene. |
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Definition
- autosomal recessive disorder
- hemochromatosis aka HFE gene |
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Term
| __ is the most common single gene disorder. |
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Definition
- Hemochromatosis
1/250 – 1/300 white persons is homozygous for the gene mutation
1/10 carrier for mutation |
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Term
| 60-93% of those with hemochromatosis are homozygous for the ___ mutation, which is a __ to __ substitution. |
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Definition
- C282Y mutation
- cysteine to tyrosine substitution
Also C282Y/H63D compound heterozygosity |
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Term
| Hemochromatosis symptoms: |
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Definition
- abdominal pain
- fatigue
- BRONZING: generalized darkening of skin color
- joint pain
- lack of energy
- loss of body hair
- loss of sexual desire
- weight loss
- weakness
Often HAVE ELEVATED LIVER ENZYMES: ALT, AST, AND TRANSAMINASES, THIS IS OFTEN HOW IT GETS PICKED UP. ELEVATED ALT AND AST WITH THIS. |
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Term
| Irreversible Manifestations of Hemochromatosis: |
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Definition
- Liver cirrhosis, hepatocellular carcinoma (most common cause of death)
- Gonadotropin insuffiency from pituitary gland, leading to secondary hypogonadism
- Diabetes Mellitus (30-60% of pts)
- Hypothyroidism
- Primary hypogonadism
- Arthropathy in MCPs (20-70%) and pseudogout |
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Term
| The __ is usually the first organ affected by hemochromatosis. __ is present in __ of symptomatic patients. __ __ __ occurs in 30% of patients who develop cirrhosis and is the most common cause of death in treated patients. |
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Definition
- liver
- hepatomegaly
- 95%
- Hepatocellular carcinoma |
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Term
| Reversible manifestations of Hemochromatosis: |
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Definition
- cardiomyopathy
- conduction disturbances
- abdominal pain
- elevated LFTs
- hepatomegaly
- bronzing (melanin deposition)
- gray pigmentation (iron deposition) |
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Term
| Homozygosity for hemochromatosis is __ between men and women, but women are __ __ __ likely to have symptomatic disease since they have built in mechanism of blood loss= period. |
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Definition
- equal
- 10 times less likely |
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Term
| In a pt with hemochromatosis, the __ __ __ would be elevated greater than 45% and the __ __ would also be elevated. |
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Definition
- serum transferrin saturation (earliest abnormality)
- serum ferritin |
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Term
| Serum __ is an acute phase reactant. |
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Definition
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Term
| Confirmation/gold standard of dx for hemochromatosis? |
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Definition
| Liver biopsy- also shows extent of disease |
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Term
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Definition
Phlebotomy weekly (maybe even twice weekly) for 1-2 years
long term maintenance about once every 3 years |
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Term
| Lifestyle modifications for those with hemochromatosis: |
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Definition
- avoid iron supplements
- avoid vit c supplements
- avoid alcohol
- avoid eating raw shellfish- susceptible to bacterial infections caused by shellfish |
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Term
| Iron is converted and absorbed as Fe+3 in the body (ferrous iron= Fe+3). |
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Definition
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Term
| People who have Sickle Cell have sickle shaped red blood cells, which causes complications because the blood cells are not able to reach certain parts of the body. |
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Definition
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Term
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Definition
- abdominal pain
- bone/joint pain
- breathlessness
- delayed growth and puberty
- fatigue
- fever
- jaundice
- paleness
- rapid heart beat
- greater risk for infection
- excessive thirst
- chest pain
- adolescents and adult can get ulcers on their legs
- poor eyesight/blindness: blood can't get to back of eyes so lack constant nourishment |
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Term
| Diseases and Conditions people with Sickle Cell are likely to develop: |
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Definition
- Acute chest syndrome
- Aplastic crisis
- DACTYLITIS: SWELLING OF HANDS/FEET
- Painful crises: usually chest, arms, legs
- Enlarged spleen
- Stroke
- Hematuria (blood in urine by lysis going on) |
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Term
One of the common misconceptions is that only black people get sickle cell, but this is not the case.
There are many different ethnicities that can have sickle cell. |
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Definition
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Term
It is estimated the up to 80,000 people in America have Sickle Cell Disease
1/500 African Americans have Sickle Cell Disease
1/1000 -4000 Hispanics have Sickle Cell
1/12 African Americans are carriers for Sickle Cell
1/50 Asians are carriers for Sickle Cell
1/100 Greeks are carriers for Sickle Cell |
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Definition
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Term
| As you can see, the areas where Malaria is present and the Sickle Cell allele is present are overlapping. |
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Definition
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Term
| Sickle cell is an __ __ disease. |
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Definition
autosomal recessive
(so both parents have to be carriers for kid to get it) |
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Term
| There are __ protein subunits of Hemoglobin A. There are __ alpha subunits and __ beta subunits. There will be different forms of hemoglobin when there is a mutation in the beta subunit. |
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Definition
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Term
| A person w/ Sickle Cell TRAIT (carrier), has an __ __ in one copy of the __ __ gene. Thus, half of the beta subunits are replaced with __ _. |
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Definition
- S mutation
- hemoglobin Beta gene
- beta S |
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Term
| Sickle Cell Disease= HbSS. This means that both copies of the hemoglobin beta gene have an __ __, so __ of this person's beta subunits are replaced by __ __. |
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Definition
- S mutation
- all
- beta S |
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Term
| Hemoglobin C results when one of the beta subunits is replaced with __ _ and one is replaced with __ _. If a person has hemoglobin C they have __ __ __ _. |
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Definition
- beta C
- beta S
- Sickle Cell Hemoglobin C |
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Term
| The mutation that causes Hemoglobin C occurs when a __ __ residue replaces a __ residue at the __ position of the beta globulin chain. |
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Definition
- glutamic acid residue replaces a lysine residue
- 6th position |
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Term
| How is sickle cell diagnosed: |
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Definition
- symptoms and family history
- CBC: RBCs would be decreased, retics increased, evidence of hemolysis
- hemoglobin electrophoresis can determine if someone is a carrier |
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Term
| There is no known cure for sickle cell, but what are some tmt options? |
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Definition
- Blood transfusions: very effective
- Hydroxyurea
- Blood and Marrow Stem Cell Transplantation
- Gene Therapy
- keep pt hydrated
- prophylactic penicillin
- pneumococcal vaccination |
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Term
| Tmt of painful sickle cell crisis: |
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Definition
- painkillers
- oral and IV fluids
once stabilized can consider transfusion |
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Term
| 2 main drugs used in sickle cell anemia: |
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Definition
- Penicillin b/c increased infections
- Hydroxyurea: reduces incidence of painful crises and need for transfusions |
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Term
Hydroxyurea
Hydroxyurea was the first effective drug treatment for adults with severe sickle cell anemia.
A study showed that daily doses of the anticancer drug hydroxyurea reduced the frequency of painful crises and acute chest syndrome in sickle cell anemia. In addition, patients taking the drug needed fewer blood transfusions. |
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Definition
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Term
| Higher doses of Hydroxyurea results in large increases in __ __ concentrations. Just a 4% increase in _ __ can help prevent some sickling. |
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Definition
- fetal hemoglobin
- fetal hemoglobin |
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Term
| The __ present on a persons RBCs determines their blood type |
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Definition
antigens (A, B, Rh)
Antigens promote agglutination or clumping of blood cells, they also known as agglutinogens. |
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Term
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Definition
| blood type O (no antigens) |
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Term
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Definition
| AB (have both antigens so won't for antibodies to A or B) |
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Term
| The Rh factor is an inherited antigen in human blood. Blood that contains the Rh factor is known as Rh positive, when it is not present the blood is said to be Rh – negative. Rh blood does not naturally contain Rh antibodies. If Rh-positive blood is injected into an Rh-negative person, the recipient develops Rh antibodies. Subsequent transfusion with Rh-positive blood may cause serious reactions with clumping and hemolysis of red blood cells. |
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Definition
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Term
| The laboratory examination to determine a person’s blood group and Rh factor is called Blood Typing |
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Definition
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Term
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Definition
donate blood for yourself for upcoming surgery
aka autotransfusion
must be donated 5 weeks before surgery |
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Term
| Whole blood is rarely used unless blood loss has been massive. With current technology, whole blood can be easily separated into its components, and patients receive only the blood product they need. |
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Definition
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Term
| RBCs in concentrated form are called packed RBCs. These may be used in what situations? |
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Definition
- anemia
- cardiovascular failure with need for more RBCs without causing overload on CV system
- GI bleeding with need to maintain hemoglobin w/o increasing bp |
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Term
| Fresh frozen plasma is useful for immediate restoration of __ b/c serum transfusions do NOT have compatability problems so blood types don't have to match. Plasma is also needed when __ _ or __ __ are low. |
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Definition
- fluid
- plasma protein
- clotting factors |
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Term
| when is platelet infusion needed? |
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Definition
| - tmt and prevention of bleeding associated with platelet deficiency |
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Term
| Transfusion of ABO – or Rh incompatible blood can result in a hemolytic transfusion reaction with destruction of the transfused RBCs and subsequent risk of kidney damage or failure. |
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Definition
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