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what is pelger huet anomaly
a genetic disorder characterized by bilobed dumbell shaped nuclei in neutrophils
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what are the typical signs and symptoms of individuals with pelger huet anomaly
none. neutrophils are functional and individuals are healthy
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what causes hypersegmentation and what condition is it often seen in?
- usually caused by maturation of neutrophils
- iron deficiency anemia
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name the two types of lipid storage disease
- gaucher disease
- niemann pick disease
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describe gaucher disease and signs and symptoms
- inability to breakdown lipids due to deficiency in beta glucocerebrosidase causing accumulation of lipids in brain, spleen, liver, lungs, bone marrow, and kidneys
- occurs in stages from type 1 to type 3 (nnon neuropathic to chronic neuropathic)
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is guacher disease treatable?
yes using enzyme replacement therapy
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describe the characteristics of niemann pick disease and signs and symptoms and the types
caused by dysfunctional metabolism of sphingomlipids due to malfunctional amounts of acid sphingomyelinase (ASM) enzyme which is found in the lysosomes of cells. Having a malfunction in ASM storage may cause cell death
there are three types NPA, NPB, and NPC
- lipid accumulation in the brain, spleen, liver
- loss of muscle tone
- brain degeneration
- ataxia (lack of muscle control in voluntary movement)
- enlargment of spleen and liver due to overworking
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neimann pick A
having little acid sphingomyelinase (ASM)
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neimann pick B
having over 10% of ASM
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what disease is associated with this cell
neimann pick disease
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what disease is associated with this cell 
gaucher disease
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what is the associated disease
gaucher disease
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what is the associated disease 
gaucher disease
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What is alder reilly anomaly
- an autosomal disorder caused by accumulation of protein carbohydrate complexes (granules) in WBC due to malfunction in lysosomes
- toxic granulation
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what are the symptoms of alder reilly anomaly
dwafism and gargolism
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what is the associated disease
alder reilly anomaly
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What is chediak higashi syndrome
- a recessive immunodeficiency disorde caused by malfunction in vesicle transport characterized by large lysosomic inclusions ion the cell and albinism
- caused by LYST gene malfunction
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What is the associated disease
chediak higashi syndrome
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what is may hegglin anomaly
characteristics: blood platelet disorder characterized by abnormally large platelets and WBC defects contains dohle leukocyte inclusions
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what are the signs and symptoms of may hegglin anomaly
- red purple colored spots on skin
- nose bleeds (epitaxis)
- excessive bleeding from mouth
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what is the associated disease 
may hegglin anomaly
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