Genetic

2. Submitted to :Sir Abu Bakar
Submitted by: Sabiha Khalid
Hematology Presentation

3. Thalassemia
Clinical Pictures
and Diagnosis

4. 1. Moderate to severe pallor/anemia
2. Mild jaundice
3. Splenomegaly
4. Hepatomegaly
5. Stunted growth
6. Typical facial changes: frontal bossing, prominent maxilla and zygoma,
depressed nasal bridge.
7. Poorly developed or undeveloped secondary sexual character
8. Typical radiological finding
Clinically Popular Features of Thalassemia

7. Most of those popularly known pictures are associated with mostly
irreversibly complicated thalassemia major, certainly destined to
deadly outcome shortly.
For successful and meaningful management of thalassemia we must
be able to diagnose symptomatic thalasemmia before appearance of
those popular picture
So, clinical features of thalassemias to be redefined

8. Clinical features of thalassemia necessarily mean clinical features of
symptomatic thalassemias, namely thalassemia major and thalassemia
intermedia. Though thalassemia major and intermedia present generally
almost similar features but in significantly different spectrum.
Clinical features of thalassemia

9. • Shortage of red blood cell –Anemia
• Pale skin
• Weakness
• Fatigue
• Enlarged liver and spleen- hepatosplenomegaly
• Heart defects
• Abnormality of urinary system or genitalia
• Hb bart syndrome can cause complications in pregnancy
such as
 High blood pressure
 Premature delivery
 Abnormal bleeding
 Jaundice
Alpha Thalassemia

10. • Heart defects
• Abnormality of urinary system or genitalia
• Hb bart syndrome can cause complications in pregnancy such as
 High blood pressure
 Premature delivery
 Abnormal bleeding
 Jaundice

11. Laboratory Diagnosis

12. • Features of thalassemia major
• Should present within 2 years of age if addressed properly
• Failure to thrive
• Repeated infection
• Pallor
• Splenomegaly (and hepatomegaly if not transfused sufficiently)
• May have clinically evidenced jaundice
• Regular transfusion required before 2 year of age for normal growth
and development
• Bony expansion causing frontal bossing, malar prominence etc along
with growth retardation revealed later in childhood if not transfused
sufficiently.
Clinical features of thalassemia

13. a. Features of thalassemia intermedia
i. Very diverse spectrum of expression, in one end it merge with
thalassemia major and on the milder end it merge with
thalassemia minor.
ii. Pallor, splenomegaly etc become clinically evident after 2 year
of age
iii. Heterogeneous clinical expression: some patients require
transfusion since early childhood and some patient may be able
to maintain normal growth and development without any
transfusion.
iv. Some patient may present in adulthood with paraplegia due to
extramedullary hemopoiesis in spinal canal, with features
related to iron loading, chronic jaundice, episodic or chronic
fatigue etc.
v. Growth retardation, bone deformity, hepatomegaly only seen in
more severe form of poorly treated or untreated cases.

14. 1. CBC:
1. Hb <9 g/dl
2. MCV - low/variable
3. MCH- low
4. MCHC- low or normal
5. RDW- markedly raised
6. WBC & Plt generally
normal
2. PBF : Gross
anisopoikilocytosis, tear drop
cells, target cells, normoblast,
basophilic stippling etc
Laboratory investigation

15. Clinical Features Laboratory Features
THALASSEMIA MAJOR • Anemia
• Hepatosplenomegaly
• Growth failure
Hb: <7g/dl
Hbf: >90%
HbA2: normal or high
HbA: usually absent
THALASSEMIA INTERMEDIA • Milder anemia
• Thalassemia facies
• hepatosplenomegaly
Hb: < 8-10g/dl
Hbf: > 10%
HbA2: 4-9%
HbA: 5-90%
beta THALASSEMIA TRAIT • Normal to mild anemia
• No organomegaly
Hb: <7g/dl
Hbf: >2.5-5%
MCH: <27pg
HbA2: 4-9%
HbA: >90%

16. Thank You !