Thalassemia Cause Diet Homeopathic Medicine Treatment Homeopathy Doctor Clinic in Rajkot Gujarat India

The Thalassemia:

Definition of Thalassemia

Thalassemia are genetic disorders of Hb synthesis in which there is reduced production of one or more chains of Hb.

Overview of Thalassemia

This results in a relative excess production of either α chains or β chains, which without their partner chains are unstable and precipitate in RBCs or their precursors.

The inclusion bodies produced by this process increase the rigidity of RBCs and result in their destruction, either in the marrow or the circulation or both.

Hence the anemia of thalassemia results from ineffective erythropoiesis due to intramedullary RBC destruction, and a shortened RBC survival caused by hemolysis.

Causes of Thalassemia

Thalassemia is caused by mutations in the DNA of cells that make hemoglobin — the substance in red blood cells that carries oxygen throughout your body. The mutations associated with thalassemia are passed from parents to children.

Hemoglobin molecules are made of chains called alpha and beta chains that can be affected by mutations. In thalassemia, the production of either the alpha or beta chains are reduced, resulting in either alpha-thalassemia or beta-thalassemia.

In alpha-thalassemia, the severity of thalassemia you have depends on the number of gene mutations you inherit from your parents. The more mutated genes, the more severe your thalassemia.

In beta-thalassemia, the severity of thalassemia you have depends on which part of the hemoglobin molecule is affected.


Four genes are involved in making the alpha hemoglobin chain. You get two from each of your parents. If you inherit i.e.:

  • One mutated gene-you’ll have no signs or symptoms of thalassemia. But you are a carrier of the disease and can pass it on to your children.
  • Two mutated genes-your thalassemia signs and symptoms will be mild. This condition might be called alpha-thalassemia trait.
  • Three mutated genes- your signs and symptoms will be moderate to severe.

Inheriting four mutated genes is rare and usually results in stillbirth. Babies born with this condition often die shortly after birth or require lifelong transfusion therapy. In rare cases, a child born with this condition can be treated with transfusions and a stem cell transplant.


Two genes are involved in making the beta hemoglobin chain. You get one from each of your parents. If you inherit i.e.:

  • One mutated gene-you’ll have mild signs and symptoms. This condition is called thalassemia minor or beta-thalassemia.
  • Two mutated genes-your signs and symptoms will be moderate to severe. This condition is called thalassemia major, or Cooley anemia.

Babies born with two defective beta hemoglobin genes usually are healthy at birth but develop signs and symptoms within the first two years of life. A milder form, called thalassemia intermedia, also can result from two mutated genes.[2]

Risk factor

Factors that increase your risk of thalassemia include i.e.:

  • Family history of thalassemia- Thalassemia is passed from parents to children through mutated hemoglobin genes.
  • Certain ancestry- Thalassemia occurs most often in African Americans and in people of Mediterranean and Southeast Asian descent.[2]


  1. Accumulation of free α-chains in norm oblasts which fail to mature and die in the marrow (apoptosis) which results in ineffective haemopoiesis.
  2. Extravascular hemolysis – Red cells formed from abnormal norm oblasts are destroyed in the spleen causing hemolytic anemia.
  3. Changes in bone marrow and bones – Development of anemia due to short red cell survival, stimulates EPO production which acts on bone marrow leading to erythroid hyperplasia of bone marrow causing expansion of medullary cavities of bones, widening of both outer and inner tables of the skull and of long bones.
  4. Extramedullary haemopoiesis causes hepatosplenomegaly.
  5. Iron overload is due to hemolysis of RBCs, increased absorption of iron from GI tract, repeated blood transfusions. Iron gets deposited in endocrines, liver, heart, bone marrow, spleen, pituitary and islets of Langerhans.


Thalassemia’s are classified, according to the particular globin chain that ineffectively produce. In α thalassemia there reduce rate of chains synthesis. β thalassemia’s associate with a deficiency of β chains.

In β thalassemia’s, a chain synthesis continues beyond the neonatal period, and most patients have an increased proportion of HbF (a2g2).

α thalassemia, the imbalance produces an excess of β chains, which form β tetramers (HbH), in adult life, and an excess of γ chain, which form γ tetramers (HbBart’s) in infancy.

Molecular Basis of the thalassemia i.e.

  • Molecular biology has provided an understanding of the nature of the defects in thalassemia syndromes. There are two a genes present on each chromosome 16 – a1 and a2.
  • The β genes are located on chromosome 11 alongside the g and d genes.
  • A large number of molecular defects are associated with a thalassemia phenotype, most of the defects in β thalassemia are small, often single base- pair changes.
  • There is marked phenotype variation in this condition because of heterogeneity at the molecular level. Some patients have mutations that result in failure to produce any globin chain whereas other mutations allow globin chain production at a reduced rate.
  • In α thalassemia, gene deletions are the most common molecular defects, but, because any individual inherits four genes, there are broadly four phenotypes corresponding to deletion of one, two, three or four genes.
  • β – thalassemia Occur predominantly in Mediterranean region and Middle and Far East. Clinically, β thalassemia is a condition of variable severity, ranging from the most severe thalassemia, to the mild heterozygous forms in which the patients have mild microcytic hypochromic anemia.

β- Thalassemia:

β-thalassemia Major – (Homozygous β-thalassemia)

Special tests for diagnosis i.e.

  • HbF levels are high since γ-chain synthesis continues in absence of β-cell formation.
  • Hb electrophoresis – demonstrates bands of both HbA and HbF in β-thalassemia.
  • Globin chain synthesis show lack of synthesis of β-chains hence a: b globin chain synthesis ratio is altered (normal 1:1).
  • DNA analysis is useful in assessing the severity of the disease and diagnosis.
  • Bio-magnetic liver spectrometry evaluates hemosiderosis of the liver.

Thalassemia Intermedia:

  • Patients who inherit mutations which lead to only mild reduction in β chain synthesis have a much less severe disorder.
  • They are usually not transfusion dependent, though splenomegaly and hypersplenism may warrant splenectomy.

Heterozygous β-thalassemia (β-thalassemia trait):

  • Those affected are usually asymptomatic and diagnosis is made on discovery of hypochromic anemia in absence of iron deficiency or other causes.
  • Mild to moderate splenomegaly in about one-third. HbA2 elevated.

Sign & Symptoms of Thalassemia

  • Onset – Affected children fail to thrive from about third month and become progressively more anemic.
  • Increasing pallor
  • Splenomegaly – Hemosiderosis with extramedullary hematopoiesis
  • Facies – Frontal bossing due to thickening of cranial bones and prominent cheek bones due to overgrowth of zygomatic bones.
  • Mild hemolytic jaundice
  • Bone changes – X-ray shows expansion of diploe with thinning of outer and inner tables. ‘Hair on end’ appearance due striations at right angles to inner , X-rays of metacarpals and metatarsals and phalanges show a ‘mosaic’ pattern because of trabeculations.
  • Increased susceptibility to infections
  • Hepatomegaly – Due to extramedullary haemopoiesis in first 3-4 years. Later on further enlargement due to hemosiderin deposits in Kupffer cells.
  • Cardiac involvement – Myocardial hemosiderosis may result in arrhythmias and cardiac failure.
  • Endocrines
  • Stunted growth from GH deficiency
  • Delayed puberty due to hypothyroidism
  • Hypoparathyroidism can cause osteoporosis and fractures
  • Diabetes mellitus due to iron deposits in islets of Langerhans.

Investigation of Thalassemia


  • Anemia – Moderate to severe with 10-12 gm/dl. RBCs are microcytic hypochromic. Target cells are present and basophilic stippling is common. Also presence of tear drop, elliptical, fragments in red cells and at times red cell with Howell Jolly body.

Reticulocytotic i.e.

  • Leukocytosis with few metamyelocytes also myelocytes


  • Reduced serum haptoglobins
  • Bilirubin (unconjugated) increased and urine urobilinogen increased
  • Iron status –

(a) Serum iron and ferratin markedly increased.

(b) Total iron binding capacity (in other words, TIBC) reduced.

Bone marrow

  • Erythroid hyperplasia with reversed M:E ratio
  • Normoblastic erythropoiesis
  • Ineffective erythropoiesis – Some norm oblasts die in the marrow without maturing into red cells
  • Myelopoiesis also Megakaryopoiesis
  • Increased bone marrow iron

Other special tests:

  1. HbF levels are high.
  2. Hb electrophoresis – Bands of both HbA and HbF in β-thalassemia.
  3. Global chain synthesis – α-β globin chain synthesis ratio altered (normal l:l) due to lack of synthesis of β chains.
  4. DNA analysis – useful for predicting disease severity and diagnosis.
  5. Liver spectrometry for detecting hemosiderosis of liver

Diagnosis of Thalassemia Trait

  1. Nessoft test – is naked eye red cell osmotic fragility test. In case of positive test, HbA2 estimation done for confirmation.
  2. HbA2 estimation is 4-8% and carry out by HPLC.

Treatment of Thalassemia

  • Blood transfusions to keep Hb between 9-11 gm%, if infant’s Hb. 6-7 gm% and failure to thrive. Transfusions give every 2-4 weeks.
  • Iron chelation – Desferrioxamine (DFX) as S.C. infusion using a syringe driver pump/infuser.
Indications i.e.–

(a) S. ferritin level > 200 mg/L.

(b) Deferiprone orally fairly well tolerate. S. ferritin needs monitoring.

(c) Deferasirox orally, if Deferiprone is not given because of side-effects. Side-effects include arthralgia, anorexia, liver dysfunction.

  • Splenectomy – Hypersplenism due to splenomegaly causes neutropenia and increased need for blood transfusion. Splenectomy reduces severity of neutropenia and subsequent infections.
  • Bone marrow transplantation – Indication for BMT is in cases where matched siblings are available in a family, if not available, to look for a matched related donor. This is curative for the patient.

Complication of Thalassemia

Possible complications of moderate to severe thalassemia include i.e.:

  • Iron overload
  • Infection
  • Bone deformities
  • Enlarged spleen
  • Slowed growth rates-Anemia can both slow a child’s growth and delay puberty.
  • Heart problems- Congestive heart failure and abnormal heart rhythms can associate with severe thalassemia.[2]


Prevention of Thalassemia Major

  • Thalassemia trait in parents – If antenatal check up reveals trait (by assessing HbA2 levels (4-8%), then father should assess for thalassemia trait and, if positive then CVS (chronic villous sampling) is necessary.
  • Antenatal VS – at 9-10 weeks of gestation analysis of foetal DNA. If fetus is homozygous for thalassemia, termination of pregnancy is advisable.
  • Thalassemia screening – All mothers with Hb < 11gm% during their first antenatal check-up should screen for Hb estimation. If MCV < 70 fl, MCH < 23 and RBC count of 7.5 million. If HbA2 estimation 4-8% a diagnosis suggest.[2]

Homeopathic Treatment of Thalassemia

Homeopathy treats the person as a whole. It means that homeopathic treatment focuses on the patient as a person, as well as his pathological condition. The homeopathic medicines selected after a full individualizing examination and case-analysis.

which includes

  • The medical history of the patient,
  • Physical and mental constitution,
  • Family history,
  • Presenting symptoms,
  • Underlying pathology,
  • Possible causative factors etc.

A miasmatic tendency (predisposition/susceptibility) also often taken into account for the treatment of chronic conditions.

What Homoeopathic doctors do?

A homeopathy doctor tries to treat more than just the presenting symptoms. The focus is usually on what caused the disease condition? Why ‘this patient’ is sick ‘this way’?.

The disease diagnosis is important but in homeopathy, the cause of disease not just probed to the level of bacteria and viruses. Other factors like mental, emotional and physical stress that could predispose a person to illness also looked for. No a days, even modern medicine also considers a large number of diseases as psychosomatic. The correct homeopathy remedy tries to correct this disease predisposition.

The focus is not on curing the disease but to cure the person who is sick, to restore the health. If a disease pathology not very advanced, homeopathy remedies do give a hope for cure but even in incurable cases, the quality of life can greatly improved with homeopathic medicines.

Homeopathic Medicines for Thalassemia:

The homeopathic remedies (medicines) given below indicate the therapeutic affinity but this is not a complete and definite guide to the homeopathy treatment of this condition. The symptoms listed against each homeopathic remedy may not be directly related to this disease because in homeopathy general symptoms and constitutional indications also taken into account for selecting a remedy.



  • Generally, Anaemia and chlorosis in young girls at puberty.
  • Menses pale also scanty, with abnormal cravings for indigestible things.
  • Lastly, Profuse aluminous leucorrhoea.

Argentum nitricum

  • Shortness of breath, without either lungs or heart being affected.
  • Furthermore, Sallow complexion from defective oxidation of the blood.
  • Heart- burn, dyspepsia; irritative flatulent gastralgia; additionally, round ulcer of stomach.
  • Menses irregular, either scanty or copious; spinal irritation, albuminuria, tendency to diarrhoea.
  • Constant desire especially for candy or sugar.


  • Complaints specifically from loss of animal fluids, be it blood, semen, diarrhoea, leucorrhoea or over lactation.
  • Moreover, Great debility, trembling, aversion to exercise.
  • Palpitations with rush of blood to head, additionally redness of face with cold hands.
  • Heaviness of head, with loss of sight, fainting also ringing in ears.
  • Sleeplessness; In detail, intolerance of fruits.

Ferrum met

  • Basically, Pure anemia with appearance of false plethora.
  • Face ashy either pale or greenish, becomes bright red in flushes, great paleness of mucous membranes.
  • Bellow’s sound of the heart also anaemic murmurs of the arteries and veins.
  • Vomiting as soon as food is taken, with relief of gastralgia pains, also prostration with lethargic dullness.
  • Animal food not desired, nor is it well borne by the stomach if taken into it.
  • Lastly, Anaemia of chlorotic girls and women.

Kali carb

  • Frequent chilliness, every time patients goes out of doors.
  • Patient becomes chilly from deficiency of red blood-corpuscles in the blood.
  • Vertigo when turning head rapidly or from riding in a carriage, with humming in ears.
  • Weakness of sight from sexual indulgence.

Natrum Mur

  • Blood impoverished; anaemia from loss of fluids; additionally malarious cachexia; emaciation.
  • Skin harsh, dry, yellow; great exhaustion from any little exertion of either mind or body.
  • Palpitation, with sensation as if a bird’s wing were fluttering in left chest.
  • Pressure and distension of stomach; constipation, with contraction of anus; terrible sadness.

Natrum carb

  • Pallid anaemia, with great debility, Milky-white skin.
  • Vitality below par; emaciation; nervousness also anxiety.
  • Aggravation during a thunder storm.
  • Playing on either piano or hearing music makes her nervous.
  • Inertia in psoric, phlegmatic persons.

Diet & Regimen of Thalassemia

  • Food rich with fortified iron should be avoided such as red meat, cereals, green leafy vegetables, vitamins C.

Frequently Asked Questions

What is Thalassemia?

They are genetic disorders of Hb synthesis in which there is reduced production of one or more chains of Hb.

Homeopathic Medicines used by Homeopathic Doctors in treatment of Thalassemia?

  • Alumina
  • Argentum nitricum
  • China
  • Ferrum met
  • Kali carb
  • Natrum Mur
  • Natrum carb

What causes Thalassemia?

It is caused by mutations in the DNA of cells that make hemoglobin — the substance in red blood cells that carries oxygen throughout your body.

What are the symptoms of Thalassemia?

  • Anemic
  • Increasing pallor
  • Splenomegaly
  • Frontal bossing
  • Mild hemolytic jaundice
  • Bone changes- ‘Hair on end’ appearance
  • Increased susceptibility to infections
  • Hepatomegaly
  • Cardiac involvement– Myocardial hemosiderosis

What are the types of Thalassemia?

  • α
  • β

References use 

[1] Medicine Golwala


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