Hematology RBC Flashcards
Pathognomonic in blood smear of G6PD
Heinz or Bite cells
AR due to chromosome breakage common in Ashkenazi Jews
Inc HBF and i Antigen
Hyperpigmentation Short stature Hypogonadism Malformation of extremities Microcephaly, mental retardation Malformations of the heart and kidneys
Pancytopenia after infancy and usually significant by 8 years
Fanconi Anemia
Microcephaly DD Cafe au lait spots Bird-like facies Micropthalmia Ptosis Strabismus, large ears VSD Horseshoe Kidney Radial abnormalities AR PANCYTOPENIA
Fanconi Anemia
Rare AR disorder Microcephaly Short stature Abnormal facie MR PANCYTOPENIA Hyperactivity, short attention span
Dubowitz Syndrome
Patients with inherited pancytopenia disorders have
chromosome fragility in metaphase preparations of PBL
Treatment for Acquired Pancytopenia
Antithymocyte Globulin
Cyclosporin
Rare congenital bone marrow failure, AD Anemia, normo and macro Reticulocytopenia Absent RBC precursors in normal BM Craniofacial abnormality 50% Skeletal anomalies GU Short stature
Congential Hypoplastic Anemia
Diamond-Blackfan Anemia
Diamnond Blackfan Anemia results from mutations jn
RPS19 gene of small 40s ribosome unit
Most common acquired red cell aplasia in children
Transient Erythroblastopenia of Childhood
Macrocytic anemia Anisocytosis, Poikilocytosis Dec retic count Neutropenia Hypersegmented neutrophils INCREASED serum ldh
Folic Acid Deficiency Anemia
FA Deficiency Anemia tx
0.5-1.0mg per day PO or IV 3-4 weeks
Maintain at 0.2mg per day if with response
Weakness Fatigue Failure to thrive Glossitis Pallor NEUROLOGIC SX Macrocytic anemia Inc urinary Methylmalonic Acid
Cobalamin Deficiency Anemia
Diagnostic for B12 deficiency
Methylmalonic acid
N 0-3.5mg/24
Tx Cobalamin Anemia
Vit B12 1.0mg parenteral oral will NOT work
Maintain with 1mg/day IM monthly
Reduction in circulating RBC mass
Anemia
Hypoxia presents with (4)
Weakness, fatigue, dyspnea
Pale conjunctiva skin
Headache, lightheadedness
Angina CAD
Markers to measure RBC mass (3)
Hb
Hct
RBC count
Anemia in males & females
<13.5 g/dl M
< 12.5 g/dl F
Microcytic anemia
MCV < 80
Normocytic
MCV 80-100
Macrocytic
MCV >100
Occur due to dec production of Hgb and extra division of cell
Microcytic anemia
Hemoglobin is composed of
Heme is composed of
Heme + Globin
Protoporphyrin + Fe
Inavailability of iron to be used for hemoglobin synthesis
Anemia of chronic disease
Any circumstance that dec production of protoporphyrin
Sideroblastic anemia
Microcytic anemia (4)
IDA
Anemia of chronic disease
Sideroblastic anemia
Thalassemia
Due to dec level of iron in the body, most common type of anemia
IDA
Most common nutritional deficiency in the world
Iron
Consumed in heme (meat derived) and nonheme (veg derived)
Iron
More readily absorbed form of iron
Heme form
Iron is absorbed in the
Duodenum
Transporter that Regulates uptake of iron to blood
Feroportin
Iron loss physiologically
Is not done by body
Decides whether iron should go into blood
Enterocyte
Iron has ability to that’s why it is always bound
Generate free radicals
transports iron and delivers it to liver and bone marrow macrophage for storage
Transferrin
Stored intracellular iron is bound to
Ferritin
For every 3 ferritin molecules,
carries iron
1
How much iron in blood
Serum iron
How many transferrin molecules in blood whether bound or not
Total Iron Binding Capacity
How many of transferrin molecules are bound by iron
Percent saturation
How many iron are in storage sites BM Macrophage and liver
Serum ferritin
Most common etiology of IDA (2)
dietary def
blood loss
In adults IDA occurs bec
PUD male
Menorrhagia or Pregnancy female
IDA in elderly bec of
Colon polyp/carcinoma
Hook worm
In neonate and infants IDA happens bec
Lack of iron in breastmilk
Poor diet
Hookworms that cause IDA
Nicator
Ancylostoma
Form of iron readily absorbed
Fe2 (ferrous) acidic form
Why can gastrectomy cause IDA
Bec gastric acid maintains acidic state fe2 hence if lost, not absorbed
Stages of Iron Def (4)
Storage iron depleted
Serum iron depleted
Normocytic anemia
Microcytic, hypochromic anemia
If ferritin goes down, TIBC
goes UP bec transferrin is released to look for Fe2 mol
Consumption of serum iron results in
Dec of percent saturation of iron
Normal percent saturation of iron
33%
Very early stage of IDA, rbcs are
before
Normocytic
Before becoming microcytic hypochromic
Clinical features of IDA (3)
Anemia
Koilonychia (spoon shaped cell)
Pica (chewing on dirt, seeking iron within dirt)
Microcytic, hypochromic anemia with inc RDW Dec ferritin Inc TIBC Dec serum iron and percent saturation Inc FEP
IDA
RDW in IDA is inc because
Of wide spectrum of size of rbc
Test to check for IDA
Free erythrocyte protoporphyrin
increased
RBCs are about the size of
Lymphocyte nucleus
Tx of IDA
Ferrous sulfate
IDA
Esophageal web
Atrophic glossitis
Dysphagia
Plummer/Vinson Syndrome
Most common type of anemia in hospitalized patients associated with chronic inflammation of cancer
Anemia of chronic disease
Chronic disease cause IDA by secreting
acute phase reactant
Acute phase reactant that sequesters iron in storage sites
Hepcidin
Hepcidin causes IDA
By limiting transfer of iron from macrophage to erythroid precursors
Hepcidin also supresses
EPO
Body releases hepcidin to
hide iron from bacteria which is needed in division except not always bacterial
Decreased available iron leading to microcytic anemia
Anemia of chronic disease
Inc ferritin Dec TIBC Dec serum iron percent saturation Inc FEP Initially normocytic then Microcytic
Anemia of chronic disease
Tx for ACD
exogenous EPO
treat underlying disease
Anemia due to defect protoporphyrin synthesis
Microcytic
Sideroblastic anemia
Final reaction of protoporphyrin synthesis is
Occurs in
Attachment of protoporphyrin to iron to make heme
Mitochondria
Rate limiting step in protoporphyrin synthesis
Succinyl coa synthesized to ALA by Aminolavulenic acid synthase
Cofactor for ALAS in protoporphyrin synthesis
B6 Pyridoxine
ALA is synthesized to porphobilinogen by
ALA dehydrogenase
Catalyzes joining of protoporphyrin with iron to become heme
Ferrochelatase
If protoporphyrin is deficient, what happens to iron
trapped in mitochondria
creating iron load around nucleus of cell
Iron laden mitochondria forming a ring around nucleus
Ringed sideroblast
In ring sideroblasts, iron is found in
mitochondria
Congential defect in sideroblastic anemia arises from
ALAS
Acquired causes of sideroblastic anemia (3)
Alcoholism
Lead poisoning
B6 Pyridoxine deficiency
Alcoholism causes sideroblastic anemia
bec it is a mitochondrial poison
Lead poisoning causes
Denaturation of ALAD and Ferrochelatase
Denaturation of ALAD and Ferrochelatase leads to
Dec production of protoporphyrin iron trapping in mitchondria
B6 Pyridoxine deficiency causes sideroblastic anemia bec
B6 is a cofactor of ALAS the rate limiting step for production of protoporphyrin
Vitamin B6 deficiency is common in patients
taking isoniazed hence sideroblastic anemia