common disorder of iron metabolism

Sickle cell disease is inherited in an _______ pattern ***

Mutations in hemoglobin genes

a kind of genetic defect that results in abnormal structure of one of the globin chains of the hemoglobin molecule

Single amino acid change, hemoglobin polymerizes in low oxygen, deform cells, stick in capillaries, destroyed

When offspring inherit both defective genes (homozygous expression), the result is ________.

When offspring inherit one recessive allele (S) and one normal allele (heterozygous expression) they become unaffected carriers and are said to have _______

Each of the four globin chains binds _____ heme molecule

Hb is a _____

Hemoglobin (Hb) functions in ______ transport

Sickle Cell Hemoglobin (HbS): Point mutation resulting in _____ to _____ substitution at residue 6 of b globin chains

Hemoglobin S is more common among persons whose ancestry is geographically connected to sub-Saharan Africa, Cuba, South America, Central America, Saudi Arabia, India. and the Mediterranean regions

________ expression of Hgb S is correlated with lower rates of mortality among carriers who are of African and Mediterranean descent, because the HbS allele decreases the risk of infection by malarial parasites endemic in those areas --> and is called ______

Phenotypic Features (of kids with sickle cell)

Phenotypic Features (of kids with sickle cell)

Phenotypic Features (of kids with sickle cell)

Clinical Diagnosis and Testing for sickle cell anemia

Complete blood count (CBC) of sickle cell anemia:

A collection of inherited blood disorders characterized by low hemoglobin production

one or more of the four genes for alpha-Hb are missing

one or two genes for beta-Hb are missing (typically more common and more severe than alpha-thalassemia)

no beta chain is produced

less beta chain is produced

Non-sickling beta hemoglobin disorders such as thalassemia can interact with a sickle cell disease mutation to cause clinically significant disease

*only have the sickle beta globin chain

*behave as if they have sickle cell disease

*more severe than sickle beta plus

*have no normal beta globin

*more mild sickle cell disease

*have some normal beta globin

*rare

*only have sickle trait

*still have beta globin gene that is normal

Hereditary Hemochromatosis (HH): _____ iron is absorbed, causing its toxic accumulation in parenchymal cells, particularly of the liver, heart and pancreas

The clinical hallmarks of advanced HH are __________ ***

Hereditary Hemochromatosis (HH) has ______ inheritance ***

Hereditary hemochromatosis (type 1 HH) is caused by a single mutation in the ______ (C282Y)

HH mutations exhibit:

HH affected tissues include:

Phenotypic Features of HH also include

HH typically presents at

HH is 10 times more common in _____

HH _____ signs & symptoms: include right upper quadrant pain, fatigue, and arthralgias.

HH ______ signs & symptoms: include hepatomegaly, hepatic cirrhosis, hepatocellular carcinoma, diabetes mellitus, cardiomyopathy, hypogonadism, arthritis, and hyperpigmented skin.

seen in HH

binds and transports iron in blood serum, and functions to deliver iron from absorption centers in the intestines to all tissues

is a protein that stores iron inside cells

elevated levels of transferrin or ferritin = _______ ***

Genetic Testing and Counseling for HH include routine labs of

Genetic Testing and Counseling for HH includes a liver biopsy with

Genetic Testing and Counseling for HH includes