M6: RBC Disorders (Types of Anemia due to Decreased
RBC Production)
By: Jan Trisha S. Hombrebueno
MAIN TOPIC
TOPIC OUTLINE
1 Different types of Anemia
2 Topic 2
3 Topic 3
4 Topic 4
5 Topic 5
ANEMIA
- Decreased oxygen carrying capacity of the blood
- it is NOT A DISEASE, but is merely a symptom
of an underlying condition
Laboratory Findings:
 Decreased (↓) RBC Count
 Decreased (↓) Hgb
 Decreased (↓) Hct
Hgb- HEMOGLOBIN Hct- HEMATOCRIT
Caused by:
 Blood loss
 Accelerated RBC destruction
 Decreased RBC Production
DIFFERENT TYPES OF ANEMIA
NORMOCYTIC ANEMIA (NORMAL MCV)
NORMOCY 1 Aplastic Anemia
TIC 2 Myelophthisic Anemia
ANEMIA 3 Chronic Dyserythropoietic
Anemia
NORMOCYTIC ANEMIA
APLASTIC ANEMIA
 rare but potentially fatal bone marrow failure
condition
 Aplastic is derived from a word which means
absence
 Plastic which means plasia, which means
growth
 Meaning there is a complete absence of
growth in your bone marrow however the
better term for this would be
 Hypoplastic anemia- better name since there’s only
decrease (hypo) in growth but there’s still some
proliferation of new blood cells; this is what
happens under normal conditions
 AT NORMAL CONDITIONS your bone marrow
will have enough hematopoietic cells that will
mature to become your blood cells
 However, in cases of APLASTIC ANEMIA, the
bone marrow fails to produce enough
hematopoietic cells leading to producing
insufficient mature blood cells
o This will then lead to PANCYTOPENIA-
which means there’s a decrease (penia) of all
(pan) cells (cyto) particularly blood cells
o Not only the RBCs is decreased but also the
WBCs, and the platelets
POSSIBLE CAUSES
1 Decreased Erythropoietin (EPO) Production
 Renal Failure
- The kidneys are the site of APO production and
therefore, if the kidneys are damaged, then they
will not be able to produce enough erythropoietin.
The anemia due to renal failure is also termed,
“Anemia of Renal Disease”
 Hypothyroidism
- May also cause anemia because if there is there is a
decrease in the thyroid hormone, then this will put
the patient under oxidative stress and will lead to a
state of hypoxia. May also be described as,
“Anemia of Endocrine Disease”
2 Decreased EPO effectiveness
 Loss of EPO receptors (in erythroid stem cells)
- In this type of cases, even if the erythropoietin is
normal or elevated, if the erythroid stem cells are
not able to detect them due to the loss of receptors,
then the bone marrow would still produce a
decrease amount of blood cells.
 Infectious hepatitis
- May also affect the effectiveness of erythropoietin.
3 Damage to bone marrow (BM) by Ionizing
Radiation
 Constant exposure to X-rays, gamma rays and
neutrons
- Since the bone marrow is a part of the body that is
responsible for blood cell production, if the bone
marrow is already destroyed or damaged, then it
will not be able to perform its job or function.
4 Damage to BM by Toxic Chemicals
- If the bone marrow is already destroyed or
damaged by the different toxic chemicals, such as
benzene and chloramphenicol, then it will not be
able to do its functions properly
 Benzene
 Chloramphenicol
5 Replacement of Normal Hematopoietic Tissue
by Tumors
 Myelophthisic anemia
- In this case, the problem is not with the
hematopoietic tissue, however, the tumors are up
taking the space that is meant for the hematopoietic
cells and that is the cause of anemia.
TYPES OF APLASTIC ANEMIA
INHERITED
1 Fanconi Anemia
- is not fanconi syndrome. They just have the same
JTSH
1
M6: RBC Disorders (Types of Anemia due to Decreased
RBC Production)
By: Jan Trisha S. Hombrebueno

name but they have completely different however, yung WBC and platelet this would be
pathophysiologies and clinical manifestations. decreased since again aplastic anemia leads to
- Meron ding pancytopenia dito (although ↓ RBC, pancytopenia
but normal WBC and PLT)  If you check the bone marrow cellularity, this
would be described hypoplastic because again,
 Commonly seen in children. mababa yung number ng hematopoietic cells inside
 Autosomal recessive or X- linked recessive the bone marrow
 There are many different genes that can cause  Serum iron- increased since again instead of being
fanconi anemia. used for RBC production, maiiwan lang sa serum
yung iron ng patient.
CLINICAL MANIFESTATIONS:  Lastly, erythropoietin would be normal since
 Physical malformations erythropoietin is produced by the kidney to
- There is abnormal structure of the hands. stimulate the RBC production.
 Aplastic anemia  In fact, in cases of anemia, this would actually be
2 Pure Red Cell Aplasia elevated. Your kidneys would be stimulating
- Only the red cell are affected increased erythropoietin production. Sometimes in
- Ribosomal cases of aplastic anemia, erythropoietin may also
be increased.
 Immune suppression of erythropoiesis ACQUIRED
 ONLY RBCs are affected 1 Cytotoxic drugs
 Either there are antibodies against erythroid 2 Benzene
precursors or the lymphocytes of the patient attack 3 Radiation
the erythropoietic cells because of this, only the 4 Infections
RBCS are affected and WBCS and PLTS remain - The different types of infections that can cause
normal aplastic anemia would be viruses like hepa B,
3 Diamond-Blackfan Anemia hepa C, measles, Epstein- Barr virus,
- Exhibits Pure Red Cell Aplasia cytomegalovirus, as well as parvovirus.
- RPS19 gene
MYELOPHTHISIC ANEMIA
 Autosomal dominant inheritance
 Usually caused by mutation in the RPS19 gene.
 There are many different types of mutation of this
specific gene, however, the main idea is that this
leads to defective ribosome function, thus leading
to anemia.
LABORATORY FINDINGS
LABORATORY RESULTS
FINDINGS
RBC count, Hemoglobin Decreased
& Hematocrit
Reticulocyte Count MCV,
MCHC  Myelophthisic- bone marrow; or phthysis,
Reticulocyte Count Decreased shrinkage
MCV, MCHC Normal What happens:
WBC count, PLT count Decreased  there is an infiltration of abnormal cells into the
bone marrow
Bone marrow cellularity Hypoplastic
- Nakukuha ng abnormal cells yung space na para
Serum iron Increased
dapat sa hematopoietic stem cells
Erythropoietin Normal
 Examples of cells or conditions that will allow the
 RBC, HGB, HCT- decreased infiltration of the bone marrow:
 Retic Count- decreased, since the problem here is - Cancer cells – especially those that have already
inadequate hematopoiesis metastasized
 MCV and MCHC- normal since the problem in o This is why myelophthisic anemia is common
aplastic anemia is not in the quality of your red in breast cancer patients
cells, its with the quantity - Leukemia
 Hindi talaga magiging abnormal yung MCV and - Myelofibrosis – fibroblasts na pede din mag
MCHC since normal naman yung structure ng rbcs

JTSH
2
M6: RBC Disorders (Types of Anemia due to Decreased
RBC Production)
By: Jan Trisha S. Hombrebueno

infiltrate sa bone marrow Autosomal Recessive

 Some cells – due to inflammation  CDAN1 gene on chromosome 15
PERIPHERAL BLOOD SMEAR (PBS)  Varies from mild to severe anemia
 We see teardrop erythrocytes  There’s a physical malformations
 Nucleated RBCS- bone marrow is not able to especially in the extremities
produce mature red blood cells properly due to lack PBS
of space  Macrocytic RBCs
 Immature myeloid cells  Poikilocytosis
 Megakaryocyte fragments  Basophilic stippling
 Cabot rings
- Since kulang yung space sa bone marrow, konti BONE MARROW
yung napoproduce and sometimes kahit hindi pa  Erythroid blasts have internuclear bridges
fully matured yung cells, narerelease na agad sila and “Swiss cheese appearance”
sa circulation CDA
TYPE
CONGENITAL DYSERYTHROPOIETIC II
ANEMIA

 Most common type of CDA

 Autosomal Recessive
 Due to the mutation on SEC23B gene on
chromosome 20
 Anemia is mild to moderate

PBS
Ineffective erythropoiesis with distinctive dysplastic
 Normocytic RBCs
changes in bone marrow erythroblasts
- this is the reason why it is included under
o Erythroblasts – are the precursor cells of
normocytic type, because the most
RBCs
common form of CDA presents with
 Erythroblasts, in this case, will have 2 or more normocytic RBCs
nuclei instead of having a single nucleus
 Poikilocytosis
 SYMPTOMS: usually occur in
 Basophilic stippling
childhood/adolescence
BONE MARROW
CLINICAL MANIFESTATIONS
 Binucleated or multinucleated
 Anemia- because of ineffective erythropoiesis
erythroblasts
 Iron overload- also ineffective erythropoiesis, so
CDA
the body is not using up the iron to produce RBCs
TYPE
 Jaundice- since RBCs are abnormal and will be III
destroyed which will generate a lot of bilirubin in
the process
 Splenomegaly  Least common type
 Autosomal Dominant
 Mutation of KIF23 gene
 It is associated with a single family in
Europe only
 Anemia is mild
PBS
 Macrocytic RBCs
CDA TYPES  Poikilocytosis
CDA  Basophilic stippling
TYPE BONE MARROW
1   Multinucleated erythroblasts

JTSH
3
M6: RBC Disorders (Types of Anemia due to Decreased
RBC Production)
By: Jan Trisha S. Hombrebueno
MACROCYTIC ANEMIA (HIGH MCV)
MACROCY 1 Megalobastic Anemia
TIC
ANEMIA
MACROCYTIC ANEMIA
 Caused by elevated MCV (>100 fL)
MEGALOBASTIC ANEMIA
 Caused by Abnormal DNA synthesis that causes
Nuclear-cytoplasmic asynchronism
o In normal condition, yung blast cells mag
mamature yan and magiging matured cell. In
RBCs, mawawala naman yung nuclei. In
cases of neutrophils, liliit lang yung nucleus
or magiging lobulated sya
o In cases of MBA, hindi sabay yung maturation
and napagiiwanan ng maturation of
cytoplasm
o Cytoplasm = NORMAL; Nucleus =
DELAYED
o Final RBCs =
MACROCYTIC
and have an oval shape
o Neutrophils or WBCs will be Hypersegmented
 Presence of MACRO-OVALOCYTE
HYPERSEGMENTED NEUTROPHILS is
associated w/ MEGALOBLASTIC ANEMIA
ETIOLOGY
 Vitamin B12 deficiency
 Folic acid deficiency
PATHOPHYSIOLOGY
So in this picture we have the role of vit b12 and folic
acid in DNA synthesis
1. First we have your 5-methyl tetrahydrofolate (5-
methyl THF), which is basically the form of folic
acid when it enters the cell, and as it enters the cell,
it will be converted to tetrahydrofolate (THF) by
vitamin B12 where it donates the methyl group to
homocysteine, thus producing methionine.
2. Once this is converted to tetrahydrofolate, this will
then be converted to 5, 10-methylene
tetrahydrofolate (5, 10-methylene THF), which is
the form of folic acid that actually helps in DNA
synthesis
3. So, how does 5, 10-methylene tetrahydrofolate
help in DNA synthesis?
- First, we have your deoxyuridine monophosphate
(dUMP), and in order to proceed with the process,
we would need an enzyme called thymidylate
synthase along with 5, 10-methylene
tetrahydrofolate or folic acid
- So, dUMP is converted to dTMP, or
deoxythymidine monophosphate in the presence of
both thymidylate synthase and folic acid. This
dTMP will then be converted into dTTP, which is
your deoxythymidine triphosphate, and then it will
proceed to DNA synthesis. So, that is the
importance of folic acid
4. So, basically, folic acid helps in DNA synthesis or
is needed in DNA synthesis. While, vitamin B12 is
basically responsible for the conversion of folic
acid and for the production of methionine
5. In cases of folic acid deficiency, then this whole
process will not happen. While in cases of vitamin
B12 deficiency, this whole process will also not
happen. And, also in cases of vitamin B12
defiency, there will also be an elevated amount of
homocysteineb along with the anemia
6. In cases na walang folic acid, hindi macoconvert
ang ating dUMP to dTMP, and therefore hindi
makakapagproduce ng normal DNA.
&
Remember:
 Folic acid is needed in DNA synthesis especially sa
conversion ng dUMP to dTMP
 While vitamin B12 is needed for the FA (folic acid)
conversion and for the production of methionine
CAUSES OF DEFICIENCIES
VITAMIN B12  Decrease intake (rare) -
DEFICIENCY associated w/ vegetarian/ vegan
diet because meat & dairy are
good sources of Vit. B12
 Malabsorption – patient is
eating/taking sources of Vit.
B12 however it is not absorbed
by the intestines properly. This
may be cause by a lack of
intrinsic factor (produced by
stomach and needed for the
absorption of Vit. B12). If
patient does not have intrinsic
factor, body will not be able to
absorb Vit. B12
JTSH
4
M6: RBC Disorders (Types of Anemia due to Decreased
RBC Production)
By: Jan Trisha S. Hombrebueno

- Other causes of Vit. B12 def. synthesis. This is due to DNA,

due to malabsorption: and abnormal synthesis of DNA
 Ileal dysfunction – intestine as well
is not functioning properly  Cytotoxic drug- will also affect
 Biologic competition DNA synthesis.
- Diphyllobothrium latum CLINICAL MANIFESTATIONS
infection Glossitis 
 Latum (intestinal parasite) Sw
o AKA fish tapeworm
o Intestinal parasite that
competes w/ Vit. B12
that is initially for the
host
 Pernicious Anemia- this falls
for malabsorption as well since
this is due to lack of intrinsic ollen and smooth tongue as
factor seen in the illustration
FOLIC ACID Angular
 Decreased intake
DEFICIENCY cheilitis
- Food sources: Green leafy
vegetables
- Overcooking →
loss/destruction of Folic Acid
 Increased utilization
- For px undergoing growth
spurts (children)
- Pregnant women
 Malabsorption  Inflammation in the sides or in
- Caused by diff. Gastrointestinal the corners of the mouth, which
disorder (Sprue & Celiac could also lead in the
disease) appearance of the sore
 Medications Jaundice  May also appear since these
- Anticonvulsants & RBCs have a shortened lifespan
Chemotherapy drugs) and this will increase bilirubin
PERNICIOUS wc will cause the jaundice
 Autoimmune disorder causing
ANEMIA the inability to absorb Vitamin Petechiae  May also appear since this is a
B12 in the intestines type of anemia that causes
 This inability to absorb Vitamin pancytopenia, meaning all
B12 is caused by the lack or blood cells will decrease
absence of intrinsic factor LABORATORY FINDINGS
LAB RESULTS
What is intrinsic factor? FINDINGS
 Intrinsic factor is needed for the RBC count, ↓
absorption of b12, so it Hemoglobin &
basically carries b12 to be Hematocrit
absorbed in the intestine Reticulocyte ↓
count
Types of Antibodies present in MCV ↑
pernicious anemia may either: MCHC NORMAL
 Block the binding of b12 to WBC Count, ↓
your IF PLT count
 Prevent binding of IFB12 Serum iron ↑
complex to your intestine Bilirubin ↑
PBS Macroovalocytes, hypersegmented
Other causes: neutrophils
 Congenital deficiencies Notes for Lab Findings:
affecting purine and pyrimidine  DECREASED RBC CT, HGB & HCT- expected

JTSH
5
M6: RBC Disorders (Types of Anemia due to Decreased
RBC Production)
By: Jan Trisha S. Hombrebueno

since sa anemia
 DECREASED RETICULOCYTE COUNT- MICROCYTIC ANEMIA
since problem sa production of RBCs mismo IRON DEFICIENCY ANEMIA
 INCREASED MCV- dahil megaloblastic, malaki  Most common type of anemia (women)
yung cells na napproduce  Requirement for iron: 1mg/ day
 NORMAL MCHC  Iron (mineral)
 DECREASED WBC AND PLT CT- dahil sa o 3.5-5g in the whole body
pancytopenia o absorbed in the duodenum and jejunum
 INCREASED SERUM IRON- since ur not o THREE FORMS/ COMPARTMENTS:
producing enough RBCS, and the iron would - Storage compartment (Ferritin)
remain in your plasma - Transport compartment (Transferrin)
 INCREASED BILIRUBIN and LDH – sa - Functional compartment (Hemoglobin/
chemistry, bilirubin and lactate dehydrogenase are Myoglobin)
markers for hemolytic conditions. As mentioned  Causes:
previously, since the RBCs in Megaloblastic o Excessive loss of iron - pathological
anemia are abnormal, and in the body, anything (gastrointestinal bleeding) or physiological
that is abnormal is destroyed. So ngayon, this (heavy menstruation, that’s why most
abnormal RBCs will be destroyed before the 120 common in women)
days is over. This will then lead to an elevation of o Nutritional deficiency- not common. 1
bilirubin due to the process that happens to your mg/day. Does not have a balance diet
hemoglobin after hemolysis. And increase in LDH o Increased physiological demand- growth
which will be release by the RBCs after hemolysis spurts, pregnancy
 MACROOVALOCYTES, o Faulty or incomplete absorption-
HYPERSEGMENTED NEUTROPHILS IN gastrointestinal disorders
PERIPHERAL BLOOD SMEAR (PBS) – - Autoimmune
presence of macroovalocytes, since again this is - H. pylori infection
Megaloblastic anemia. And also makikita mo - Celiac disease - may affect iron absorption
presence of hypersegmented neutrophils. - Achlorhydria - lack of HCl in the gastric fluid
OTHER CAUSES OF MACROCYTIC ANEMIA - Steatorrhea - affects the stool of the patient
Termed as Non megaloblastic anemia (frothy/ fatty stool), and iron absorption
 MCV – does not exceed 120 fL (<120fL) CLINICAL MANIFESTATIONS
 Peripheral Blood Smear (PBS) – no  Anemia
hypersegmented neutrophils and no oval  Pallor- paleness or
macrocytes. Not oval in shape; simply normal in absence of color in
shape the skin (face,
conjunctiva)
OTHER CAUSES OF MACROCYTIC ANEMIA:
 Glossitis-
 Liver disease – alcoholism swelling of the
 Myelodysplastic syndrome tongue; appears
 Acute erythroid leukemia – as well as other types smooth
of leukemia
 Congenital dyserythropoietic anemia  Angular
- CDA Type I and III – some major types of CDA cheilosis-
that are macrocytic in nature appearance
 Reverse transcriptase inhibitors of sores in the
mouth area (corners
of the mouth)
MICROCYTIC ANEMIA (LOW MCV)
 Koilonychia- flattening or spoon-shaped nails
1 Iron Deficiency Anemia
MICROCYT 2 Anemia of Chronic Inflammation
IC ANEMIA 3 Sideroblastic Anemia
4 Thalassemia
 1,2,3 are all about iron
 4 is about globin chain

JTSH
6
M6: RBC Disorders (Types of Anemia due to Decreased
RBC Production)
By: Jan Trisha S. Hombrebueno

phase reactant
- Acute phase reactants are the substances that
increase during inflammation, and hepcidin is
one of them.
PATHOPHYSIOLOGY

 Pica- cravings of unusual or non-food items (ex.

Dirt like soil, ice)

 So, basically what happens is that if iron is elevated

then hepcidin will be elevated as well, since there
is a directly proportional relationship between iron
and hepcidin
 However, if there is an increase in hepcidin levels,
then this will decrease the release of iron and the
absorption of iron
 So, the relationship between hepcidin and iron
release and absorption would be inversely
proportional. o So, the reverse is true. For example,
if you have decreased iron levels then your
hepcidin levels will also decrease as well, and
when your hepcidin levels are decreased, this
would allow for increase iron release from the liver
and macrophages, as well as increase absorption in
the liver.
LABORATORY FINDINGS
LAB FINDINGS RESULTS
RBC CT, HGB, HCT ↓
RETIC CT ↓
LABORATORY FINDINGS MCV, MCHC ↓
LAB FINDINGS RESULTS Serum iron ↓
RBC CT, HGB, HCT ↓ Serum ferritin (storage ↑/Normal
RETIC CT ↓ form of iron)
MCV, MCHC ↓ stainable iron TIBC ↓
Bone marrow Severely ↓ Free erythrocyte ↑
Serum iron ↓ protoporphyrin
Serum ferritin ↓
TIBC ↑ SIDEROBLASTIC ANEMIA
Free erythrocyte ↑
protoporphyrin

ANEMIA OF CHRONIC INFLAMMATION

 AKA Anemia of Chronic Disease
 Second most prevalent cause of Anemia (No. 1 is
IDA)
 Complication of inflammation, infection,
malignancy, systemic diseases and  Inability to bind
 Associated with elevated Hepcidin levels iron to protoporphyrin structures in the
- Hepcidin is responsible for the regulation of mitochondria of the RBC
iron storage and release. It also acts as an acute

JTSH
7
M6: RBC Disorders (Types of Anemia due to Decreased
RBC Production)
By: Jan Trisha S. Hombrebueno

 Presence of NRBCs with iron granules o Adequate

iron but unable to incorporate to Hgb - Are
 This is not a problem of iron deficiency but this is erythrocyte
just the body being unable to attach the iron to precursor
protoporphyrin to form heme that are
CONGENITAL ACQUIRED usually seen
 X-linked  Primary sideroblastic in the BM
 Autosomal anemia (refractory that have a
anemia) ring of iron
o Secondary granules
o Anti-TB drugs surrounding
its nucleus.
o Chloramphenicol
o Alcohol
o Lead - These iron granules are seen in this area
o Chemotherapy because if you can remember in the previous
drugs slid, what happens is sideroblastic anemia is
PATHOPHYSIOLOGY that there is enough iron pero yung patient is
not able to incorporate or to add this iron to the
protoporphyrin. So yung iron masstock sa
mitochondria, your iron would be on
mitochondrion, which is near the nucleus. That
is the reason why, this ringed sideroblasts are
almost always in cases of sideroblastic anemia

 Siderocytes – mature RBCs with iron granules

 There are 3 main points that are important in

sideroblastic anemia
1. First is the conversion of glycine and
succinyl CoA to aminolevulinic acid (ALA)
by heme synthase (ALA synthase), which is
the enzyme affected in hereditary sideroblastic
anemia
2. Next is the conversion of aminolevulinic
acid to porphobilinogen (PBG) which is
catalyzed by the enzyme ALA dehydratase,
which is the enzyme affected or inhibited by
lead poisonin
3. So, this process will continue,
porphobilinogen succeeding enzyme reactions
will happen until we reach your
protoporphyrin IX, and to converted the
protoporphyrin IX to heme, you would need
the addition of iron, and this will be catalyzed
by the enzyme ferrochelatase, which is the
enzyme inhibited by lead poisoning
 In hereditary sideroblastic anemia, the enzyme
ALA synthetase is affected. While in lead
poisoning, it is either the enzyme ALA
dehydratase or the enzyme ferrochelatase

CELLS & INCLUSION SEEN IN

SIDEROBLASTIC ANEMIA
 Ringed sideroblasts – seen in the BM

JTSH
8
M6: RBC Disorders (Types of Anemia due to Decreased
RBC Production)
By: Jan Trisha S. Hombrebueno

 This is comparable to hemoglobinopathies are

disorders like sickle cell disease (where there is an
- Mature RBCs abnormal form of hemoglobin S
with iron  Hgb S is abnormal bec theres a change in some part
granules in of the structure of the hgb itself. Meaning defect is
them as seen qualitative in nature, di katulad sa Thalassemia
in this image where quantitative talaga yung defect
 May lugar sa mundo where theres a higher
incidence of thalassemia, referred to as
Thalassemia Belt: Mediterranean, Africa, Asia
2 TYPES OF THALASSEMIA
 Pappenheimer bodies  ALPHA THALASSEMIA
o Decreased Alpha Chain Synthesis (1-3 of 4
- iron inclusions Genes Deleted)-Chromosome 16
inside RBCs o Based on gene deletion
- Iron inclusion
o Based on many genes are deleted
bodies inside the
o Normal cond: person must have 2 sets of
RBCs. This will
actually appear alpha gene. One set from each parent, so u
using your Wright have 4.
staining o In cases of silent carriers, Then 1 from these
genes is deleted.
o Alpha Thalassemia Trait- means that there is
 Basophilic stippling – lead poisoning 2 deleted genes and these deleted genes may
either come from the same in parent or from
both parent. May either be both from the
father or 1 from the father and 1 from the
(RNA-> Aggregation of mother. Both are alpha thalassemia trait.
Ribosomes-> Basophilic o Hb H disease- there are 3 deleted genes. Both
stippling) sides from one parent and another deleted
gene from the other parent.
o Hydrops fetalis with Hb Bart- this would
mean that all 4 alpha genes are deleted. This
- This are usually associated with lead poisoning, type of alpha thalassemia is incompatible with
which is a life. The patient will not be able to survive,
- common cause of sideroblastic anemia. they usually die in utero
- Lead leads to the appearance of this type of
inclusions because increase amount of lead will  BETA- THALASSEMIA
lead to the breakdown of your RNA, which will There are 3 main types:
lead to the aggregation of ribosomes. So, this is 1. B-thalassemia minor
what will become to your basophilic stippling o Normally you have two genes for the
LABORATORY FINDINGS encoding of your beta chains. However in
LAB FINDINGS RESULTS cases of B- thalassemia minor, it’s either that
RBC CT, HGB, HCT DECREASED one of the genes is normal while the other
RETIC CT DECREASED does not produce any beta chain at all or one
MCV, MCHC DECREASED of the beta chains is normal while the other is
Serum iron INCREASED able to produce a little amount of beta chains.
Serum ferritin INCREASED o In both cases, there will only be a decrease
TIBC DECREASED/NORMAL beta chain synthesis since one of the genes is
FEB INCREASED still normal. So in these cases, there is only a
mild anemia
2. B-thalassemia major
THALASSEMIA
o There are either two abnormal genes that are
 Inherited disorder causing quantitative defect in
not able to produce any beta chain at all or
globin chain synthesis.
two abnormal beta chain genes that are able to
 Defect is quantitative meaning, either there is an produce only a very small amount of beta
absence or decrease in the alpha or the beta chains chains
of your hemoglobin

JTSH
9
M6: RBC Disorders (Types of Anemia due to Decreased
RBC Production)
By: Jan Trisha S. Hombrebueno

3. B-thalassemia intermedia
o Less clearly defined
o It is worse than B-thalassemia minor but not
as severe as B-thalassemia major
LABORATORY FINDINGS
LAB FINDINGS RESULTS
RBC CT, HGB, HCT DECREASED
RETIC CT INCREASED
MCV, MCHC DECREASED
Serum iron INCREASED/NORMAL
Serum ferritin INCREASED/NORMAL
TIBC NORMAL
PBS Anisocytosis,
poikilocytosis, target cells,
polychromatophilia
Lab findings notes:
 RETIC CT INCREASED- because the bone
marrow will try to compensate however there is
still anemia since the erythropoiesis in thalassemia
is ineffective.
 SERUM IRON, SERUM FERRITIN, TIBC
NORMAL and SOMETIMES SLIGHTY
INCREASED (all iron studies)
- Because the problem in thalassemia is not with
the iron but with the synthesis of globin chains
 PBS- there is anisocytosis, poikilocytosis, and
polychromatophilia. However the most significant
finding out of all these would be the presence of
target cells.

JTSH
10