OM VERMA ASSOCIATE PROFESSOR GRACIOUS COLLEGE OF NURSING ABHANPUR RAIPUR C.G

1. GRACIOUS COLLEGE OF NURSING
RAIPUR
HAEMATOLOGICAL DISORDER
PRESENTED BY
OM VERMA
ASSISTANT PROFESSOR

2. Haematological Disorder
Haemoglobin is composed of iron containing pigment called heme
and protein globin. It is present in the RBC and is responsible for
oxygen transport.
1. Each molecule of heme consist of protophyrin with an iron atom.
2. Each globin chain is made up of two pairs of unlike polypeptide
2. Each globin chain is made up of two pairs of unlike polypeptide
chains and is bound to heme molecule. Each polypeptide chain is
designated by a Greek letter. Different types of globin chains are
produced during the embryonic fetal and postnatal stages of
development.
In Adults, four types of globin chains are produced namely: Alpha,
beta, gamma and delta All normal haemoglobin's contain a chain.

3. Hematologic disorders involve the
blood and include problems with red
blood cells, white blood cells, platelets,
bone marrow, lymph nodes, and
spleen. anemia, bleeding disorders
spleen. anemia, bleeding disorders
such as hemophilia, blood clots, and
blood cancers such as leukemia,
lymphoma, and myeloma.

4. Disorders of Haemoglobin:
Disorders of haemoglobin may be due to the abnormal or reduced
production of normal haemoglobin.
1. Qualitative defects in (abnormal) haemoglobin: Genetic
mutations in the alpha globin/ẞeta globin locus may result in the
production of structurally abnormal haemoglobin with a different
production of structurally abnormal haemoglobin with a different
amino acid composition.
1. Quantitative defects in haemoglobin: A second type of
genetic mutation in the globin loci is characterized by a quantitative
reduction in the synthesis of alpha globin or ẞeta globin chains and
a net reduction in the formation of haemoglobin.

5. Sickle cell disease :
Sickle cell disease is an important
group of qualitative hereditary disorder
The hemoglobin is abnormal, which
The hemoglobin is abnormal, which
causes the red blood cells to become
hard and sticky and look like a C-
shaped farm tool called a “sickle.”

6. Disorders of haemoglobin synthesis:
The thalassemia syndrome is a
heterogeneous group of inherited
quantitative haemoglobin disorders
which results from a genetic
which results from a genetic
abnormality of globin production.
There is decreased or absence of
synthesis of either alpha or ẞeta
globin chain of adult haemoglobin,

7. Thalassemia is an inherited (i.e., passed from
parents to children through genes) blood
disorder caused when the body doesn't make
enough of a protein called hemoglobin, which
impaired production of one type of globin chain
impaired production of one type of globin chain
(alpha chains in alpha thalassemia; beta chains
in beta thalassemia) causes an imbalance in the
ratio between alpha and beta (or beta-like)
chains, an important part of red blood cells.

8. • They are classified according to the
particular globin chains synthesized
in reduced amounts,
• e.g., alpha and ẞeta thalassemia.

9. 1. Beta -Thalassemia:
Beta-thalassemia is a hereditary disorder
characterized by diminished synthesis of
structurally normal ẞ-globin chains,
associated with unpaired synthesis of alpha
chains. The clinical severity of the anaemia
varies due to heterogeneity in the causative
varies due to heterogeneity in the causative
mutations.
2. Alpha Thalassemia: The alpha thalassemia
inherited disorders are characterized by
reduced or absent synthesis of alpha globin
chains.

10. 3. Haemophilia
Hemophilia is usually an inherited bleeding
disorder in which the blood does not clot
properly. This can lead to spontaneous bleeding
as well as bleeding following injuries or surgery.
Blood contains many proteins called clotting
Blood contains many proteins called clotting
factors that can help to stop bleeding. Blood
contains many proteins called clotting factors
that can help to stop bleeding. People with
hemophilia have low levels of either factor VIII (8)
or factor IX (9).

11. Hemophilia A
It is most common hereditary X-linked recessive
disease is a hereditary bleeding disorder caused by a
lack and reduction of blood clotting factor VIII (8).
Without enough factor VIII (8) , the blood cannot clot
properly to control bleeding.
Hemophilia B
It is a also called christmas disease is a hereditary
bleeding disorder caused by a lack of blood clotting
factor IX (9).. Without enough factor IX (9)., the blood
cannot clot properly to control bleeding.

12. Genetics
Haemochromatosis
Haemochromatosis

13. Haemochromatosis
Haemochromatosis was first discovered
by Von -Recklinghusen in 1889.
Haemoachromatosis is characterized by the abnormal
Haemoachromatosis is characterized by the abnormal
accumulation of iron in parenchymal organs, which leads to
toxic damage of the involved organ.
The term "heme" means blood and "chroma" means colour
and refers to the characteristic bronze skin tone caused by
the iron over load.

14. Definition
Haemochromatosis is an inherited condition where
iron levels in the body slowly build up over many
years. This build-up of iron, known as iron overload,
can cause unpleasant symptoms. If it is not treated,
this can damage parts of the body such as the liver,
this can damage parts of the body such as the liver,
joints, pancreas and heart.
A genetic or acquired disorder in which iron-binding
protein accumulates in various tissues, typically
leading to liver damage, diabetes mellitus, and
bronze discoloration of the skin.

15. CAUSES HEMOCHROMATOSIS
There are two types of hemochromatosis,
each with different causes.
An inherited genetic change is the most
common cause. It’s called primary
hemochromatosis,
hemochromatosis,
PRIMARY HEMOCHROMATOSIS,
Hereditary hemochromatosis or classical
hemochromatosis. With primary
hemochromatosis, problems with the DNA come
from both parents and cause the body to absorb
too much iron.

16. SECONDARY HEMOCHROMATOSIS,
Medical treatments or other medical
conditions cause the iron overload.
Examples include:
Anemia (low amount of red blood cells).
Anemia (low amount of red blood cells).
Blood transfusions.
Iron pills or injections.
Kidney dialysis over a long period of time.
Liver disease, such as hepatitis C
infection or fatty liver disease.

17. Symptoms
Joint pain.
Abdominal pain.
Fatigue.
Weakness.
Diabetes.
Loss of sex drive.
Impotence.
Heart failure.
Heart failure.
arthritis
liver disease or cirrhosis (permanent scarring) of the liver
enlargement of the liver
diabetes
hypothyroidism
heart disease
pancreatitis

18. Diagnostic test
History taking
Physical examination
Blood tests to measure how much iron is in your blood and organs.
Genetic testing to see if you have the inherited form of
Genetic testing to see if you have the inherited form of
hemochromatosis.
Liver biopsy, when a small needle removes a tiny bit of liver tissue for
study under a microscope.
MRI to take detailed pictures of your organs.

19. CHELATION THERAPY
Aims to balance the rate of iron
accumulation from blood transfusion by
increasing iron excretion in urine and or
faces with chelators. Drugs Deferoxamine
faces with chelators. Drugs Deferoxamine
called iron chelators given
subcutaneously remove extra iron from
your body.

20. Dietary changes
Dietary changes to limit iron intake can help
reduce symptoms. Dietary changes can
include:
Avoiding supplements that contain iron
Avoiding supplements that contain vitamin C, as this
Avoiding supplements that contain vitamin C, as this
vitamin increases iron absorption
Reducing iron-rich and iron-fortified foods
Avoiding uncooked fish and shellfish
Limiting alcohol intake, as this can damage the liver

21. Complications
Without treatment, an accumulation of iron can lead to
health complications, such as:
Cirrhosis is a condition in which your liver is scarred and
permanently damaged.
A Higher Chance Of Liver Cancer Relating To Cirrhosis Or
A Higher Chance Of Liver Cancer Relating To Cirrhosis Or
Hemochromatosis
Diabetes And Associated Complications
Congestive Heart Failure If Too Much Iron Builds Up In The
Heart And The Body Cannot Circulate Enough Blood

22. Irregular Heart Rhythms, Or Arrhythmias, Leading To
Chest Pain, Palpitations, And Dizziness
Endocrine Problems, Such As Hypothyroidism
Arthritis, Osteoarthritis, Or Osteoporosis
Bronze Or Gray Skin Due To The Deposits Of Iron In
Bronze Or Gray Skin Due To The Deposits Of Iron In
Skin Cells
Other Complications Can Include Depression,
Gallbladder Disease, And Some Cancers.