Hematology is the study of blood, the blood-forming organs, and blood disorders. Hematology is a sub-specialty of internal medicine that is separate from but overlaps with medical oncology. At Nirali Cancer Hospital, we specialize in treating patients with an array of different blood disorders, including anemia, blood clotting disorders, increased or decreased blood cell counts, hemoglobin disorders (such as sickle cell disease and thalassemia), and blood cancers (also known as hematological malignancies, such as leukemia, lymphoma, and multiple myeloma).
Iron deficiency anaemia:
Iron deficiency is one of the biggest health challenges in India, especially in women, children, and the economically disadvantaged. Iron is an element that is important for various physiological processes due to its presence in various biological molecules. Low iron content affects mother blood cells in the bone marrow which results in low hemoglobin (anemia). Due to its universal presence, iron deficiency also affects other organ systems that may result in hair loss, nail changes, irritability, pica (craving for non-food elements), etc. Iron deficiency may be present without anemia which often manifests as neuropsychiatric symptoms. So, an apparent psychiatric problem may be actually iron deficiency. Causes of iron deficiency may vary from person to person. Your doctor usually bases his or her judgment on patient history and diagnoses whether it is due to blood loss, absorption defect, or poor intake. Your doctor may prescribe you ferritin, iron studies, stool test or endoscopies to determine the cause of low iron. Once diagnosed, iron deficiency can be treated by oral iron therapy, IV iron, or blood transfusion. The line of treatment is based on the severity of features and the discretion of the doctor. Replenishing iron usually rapidly improves the overall well-being of patients. You can take advice regarding food and iron supplements to maintain your blood iron levels.
Sickle cell anaemia:
It is a type of hemoglobinopathy with qualitative defects in the hemoglobin structure. Sickle cell anemia is an autosomal recessive disorder, and it is one of the first diseases to be identified as a point mutation a cause. Being autosomal recessive, it is more visible in siblings than parents. Hemoglobin is made up of two alpha chains and two beta chains of protein. Due to a specific point nutation in DNA responsible for the synthesis of the beta chain, an abnormal beta chain is synthesized. This results in the formation of sickle hemoglobin or HbS. A milder form of the disease is called sickle cell trait which is usually asymptomatic. Sickle cell anemia patients often experience, in the second decade of their life, painful swelling in fingers (dactylitis). They can have other painful episodes like priapism. Acute chest syndrome is often life-threatening. Long-term problems include kidney injury, avascular necrosis of the hip, retinal damage, stroke, etc. Sickle cell anemia can be diagnosed easily with Hb electrophoresis or HPLC. For prevention of painful episodes, certain drugs are prescribed like hydroxyurea, L-glutamine, voxelate and crizanlizumab. Early in life, it can be cured with an allogeneic bone marrow transplant, and it has specific indications for that. Gene therapy is under trial for sickle cell anemia with variable success.
As sickle cell anemia, thalassemia is also a hemoglobinopathy, but it is a disorder of hemoglobin quantity. Depending on the severity, it can present shortly after birth and require frequent blood transfusion for survival (thalassemia major). In the milder form, it is incidentally detected in later life (Thalassemia minor) and never requires a blood transfusion. An intermediate severity disorder is called thalassemia intermedia which requires blood transfusion occasionally. Diagnosis can be done by Hb electrophoresis or HPLC. In complex cases, genetic studies can be done. Thalassemia major requires lifelong blood transfusion and chelation therapy. However early in life, it can be cured by allogeneic bone marrow transplantation.
Hereditary spherocytosis (HS) and membrane disorders:
HS is an RBC membrane disorder and transmitted an autosomal dominant fashion. This means it will be seen more commonly in parents than in siblings. HS remains often asymptomatic but a patient can have severe anemia or jaundice during infection. A patient may have gall stones and splenomegaly. Diagnosis is done by an osmotic fragility test or EMA binding essay. In complex cases, genetic studies are done. Usually, splenectomy ameliorates anemia in HS but some genetic variants may be less responsive.
G-6 PD deficiency:
Deficiency of this enzyme based on genetic defect and severity presents as bouts of haemolytic anaemia (breakage as blood cells causing anaemia and jaundice). Infection or certain medicines like antimalarial drugs can cause haemolytic episodes. Diagnosis is done by measuring enzyme level. Avoidance of oxidant drugs is the only management option in most cases.
Autoimmune haemolytic anaemia:
It is an acquired haemolytic anaemia. Patient presents with fatigue, pallor, and jaundice. Diagnosis is done by direct coombs’ test. Treatment is steroid and other immunomodulators.
Patient presents symptoms similar to other anaemia symptoms but there may be also a decrease in white blood cells and platelets. It can be diagnosed by examining the blood picture. The most common cause is Vitamin B12 deficiency. Most patients improve with vitamin B12 therapy.
Thrombotic microangiopathy (TTP/HUS):
This disorder is more catastrophic and often present as infection/sepsis. It can be diagnosed with blood picture and measurement certain serum chemicals like ADAMTS13. Treatment is by therapeutic plasma exchange and/or haemodialysis. Atypical HUS often warrants treatment with Eculizumab which is a very expensive therapy.
This is better known as aplastic pancytopenia. Patients often present with fever, bleeding, and fatigue. Blood picture shows all cell lines diminished. Bone marrow biopsy is diagnostic. If eligible, patients can be treated with allogenic bone marrow transplant which is curative. In patients who are not candidates for transplant, triplet therapy with anti-thymocyte globulin (ATG), cyclosporine and entomophagy, >90% can achieve normal blood counts
Haemophilia is a bleeding disorder due to clotting factor deficiency; mostly factor VIII (Haemophilia A) or factor IX (Haemophilia B). Those can have varying degree of severity based on genetic defect. Both are X linked disorder; that means it is almost exclusively seen in male while females are carrier of the disease. In a suspected case, diagnosis is done by factor assay in dedicated laboratory. Treatment is done by ideally prophylactic factor replacement therapy. Factors can be recombinant or can be plasma derived. In some patient prophylactic therapy becomes ineffective due to development of inhibitors. Such patients can be treated by new agent omalizumab. Haemophilia is the first disease that can be cured by gene therapy, especially haemophilia B.
Von Willebrand disease (VWD):
Like haemophilia, it is also a bleeding disorder and often called autosomal haemophilia. In contrast to haemophilia, VWD is associated with skin and mucus membrane bleeding. It can have varying degrees of severity based on genetic lesion. Diagnosis is relatively more complex than haemophilia and needs dedicated laboratory support.
As the name suggests, it is a bleeding disorder due to diminished clotting factor activity due to acquired inhibitor later in life. Most common causes are autoimmune or neoplastic disorder. Unlike hereditary haemophilia, joint bleeding is uncommon and deep tissue bleeding is more common. Diagnosis is done by factor assay and titre of inhibitors. It is managed with treatment of primary disorder with immunomodulators or chemotherapy.
Immune thrombocytopenia (ITP):
ITP is a bleeding disorder due to decreased platelet count. Platelets are essential for blood clotting. In case of very low platelet count, bleeding can occur from skin and mucus membranes. Very rarely fatal intracranial bleeding can occur. Platelet transfusions are usually ineffective and reserved for more serious cases. In more complex cases bone marrow studies may be required. Treatment is usually with steroids and other immunomodulators.
The common word for this is blood clotting. Clinical manifestations depend on which vessel is blocked; artery or vein and the organ it affects. It is multifactorial usually and some patients can have inherited or acquired tendency for blood clotting. It is treated with blood thinners (anticoagulants, anti-platelets) or in some cases thrombolysis / mechanical intervention.
Acute myeloid leukaemia (AML):
It is one of the most aggressive of blood cancers. Patients usually present with fever, bleeding and anaemia. Diagnosis is usually obvious from blood findings but for further risk assessment, bone marrow studies and other genetic/molecular tests are done. For immediate control of blood cancer, aggressive chemotherapy – called induction chemotherapy is administered. Based on risk stratification, the patient is further treated with chemotherapy or bone marrow transplant. In modern day practice many subtypes of acute myeloid leukaemia are manageable.
Acute promyelocytic leukaemia (APL):
It is a special subtype of AML which was considered most lethal in the past but at present considered a potentially curable form. Patients usually have catastrophic presentation with bleeding, clotting, fever, and organ dysfunction. Diagnosis is usually evident from blood smear examination and treatment with medicine called ATRA is started immediately. Confirmation of diagnosis is done by RT-PCR test. In low-risk cases, disease is potentially curable.
Acute lymphoblastic leukaemia (ALL):
ALL is a type of aggressive blood cancer which is more common in the paediatric age group but can be seen in adults too. Clinical features are the same as acute leukaemia but it has different immunophenotype, and is treated differently from AML. As compared to AML, it has longer duration of treatment. In some cases, bone marrow transplantation may be required.
Blastic plasmacytoid dendritic cell neoplasm:
It is a unique type of blood cancer. Patients often present with non-healing skin ulcer. Biopsy of ulcer and bone marrow is diagnostic. It has a peculiar immunophenotype. It uniquely responds to initial induction chemotherapy but soon relapses and become refractory. A new drug – Tagraxofusp has been recently approved.
Chronic myeloid leukaemia:
It is a type of indolent (slow growing) blood cancer. It became the first blood cancer to be treated by targeted therapy. Patients present with fatigue, anorexia and sometimes massive splenomegaly. Diagnosis is done by PCR test. Bone marrow biopsy may be required initially for diagnosis. Imatinib, a drug of class called tyrosine kinase inhibitor (TKI) changed the outcome of disease drastically. It has changed the disease from potentially fatal to chronic manageable disease. Many new drugs are being incorporated in treatment and many patients, after certain years of treatment, can stop medicines without re-occurrences.
Polycythaemia vera/essential thrombocythemia/primary myelofibrosis:
These are called myeloproliferative neoplasms (MPN). Patients may present with high haemoglobin, high platelet counts, enlarged spleen, fever and cachexia. Sometimes these patients present with unexplained blood clotting. Diagnosis requires bone marrow test and certain molecular tests. Treatment can be done by phlebotomies (blood removal), blood thinner, chemotherapy and targeted therapies. Primary myelofibrosis is the most symptomatic among these and may require bone marrow transplant.
Malignant eosinophilic disorders:
In a majority of cases, eosinophilia is due to non-malignant causes but sometimes it can be due to cancer. Diagnosis is established by bone marrow study, genetic/molecular work up. Some causes of eosinophilia can be managed with Imatinib and some may need immunomodulators or chemotherapy.
It is a relatively rare haematological cancer which initially presents with disorder of other organ systems and remains undiagnosed for a long time. Patients usually have a history of frequent allergic reactions, anaphylaxis, dry flushing, syncope, abdominal cramping, episodic diarrhoea etc. Diagnosis is done by usually bone marrow biopsy with special staining and molecular tests. Severity ranges from mild disease to aggressive fatal condition. Targeted therapy is now available in the form of moisture. Overall outcome remains poor for aggressive forms even after bone marrow transplantation.
Non-Hodgkin lymphoma (NHL):
It is a type of blood cancer that predominantly involves lymph nodes and other lymphoid organs. Patients usually present with swelling of lymph nodes, fatigue and recurrent fever. Diagnosis is done by biopsy of lymph node. Biopsy will show whether it is a B or T /NK cell origin. PET CT scan and bone marrow biopsy is often done for staging. Usually, it is treated by 6 cycles of chemotherapy delivered every 21 days. It is curative in many patients. Burkitt lymphoma/ double hit lymphoma are more aggressive form of NHL. Some patients do relapse and need bone marrow transplant.
It is also a type of blood cancer affecting lymph nodes. Presentation is nearly similar to non-Hodgkin lymphoma; but it is morphologically and genetically different and treated differently. Diagnosis and staging are carried out similarly. Treatment is usually done every 14 days for a total of 12 doses (6 cycles). In early stages, it has high cure rates. In relapse cases, newer drugs (Brentuximab devoting, Nivolumab, Pembrolizumab) and bone marrow transplant are an option.
Chronic lymphocytic leukaemia (CLL) and other indolent lymphomas:
CLL, marginal zone lymphoma, hairy cell leukaemia (HCL), follicular lymphoma, lymphoplasmacytic lymphoma (LPL, Wald Enstrom macroglobulinemia) etc. comes under the spectrum of indolent lymphoma. They grow slowly and most often don’t require treatment initially but at some point of time, they do need treatment. Usually patients present with fatigue, anorexia, fever, lymph node swelling, bleeding, and enlarged spleen. Diagnosis is often established by biopsy/ immunophenotyping by flowcytometry or IHC. CLL can be managed very well by targeted chemotherapy like ibrutinib and Veneto lax.
Mantle cell lymphoma:
It is relatively aggressive type of cancer. Patients present symptoms like lymphoma but with shorter duration. Usually, immunophenotyping by flow cytometry is diagnostic. It is treated with aggressive chemotherapy, upfront autologous bone marrow transplant and maintenance therapy.
It is a blood cancer of antibody producing plasma cells. Patients often present with anaemia, kidney failure and low trauma fracture. Investigation often shows hypercalcemia (increased blood calcium level). Diagnosis is done by serum electrophoresis, free light chain assay and bone marrow studies with genetic studies. PET CT scan is often done. Treatment modalities have changed drastically in the last decade with availability of targeted therapies like bortezomib, lenalidomide, daratumumab etc. Usually, it is considered incurable but upfront autologous bone marrow transplant can improve survival.
Systemic amyloidosis (AL):
A relatively rare disorder, it comes under the spectrum of plasma cell dyscrasia. It is a great mimicker of other disorders. Patients often have unexplained heart failure, kidney injury, bleeding tendency etc. Diagnosis requires strong suspicion and needs bone marrow/fat pad biopsy with special staining (congo red, IHC). Presence of monoclonal band in protein electrophoresis further support diagnosis of AL amyloidosis. Many drugs of multiple myeloma work with amyloidosis. If the heart is not an involved organ, long term outcomes are excellent.
This is one of the enigmatic haematological disorders. It is also called angio-follicular lymphoma. Patient often presents with chronic debleating condition and remain undiagnosed. Lymph node biopsy if available can clinch diagnosis at an expert centre. Often associated with viral infections (HIV, HHV8) and other paraneoplastic disorders like POEM (polyneuropathy, organomegaly, endocrinopathy, monoclonal protein), and TAFRO (Thrombocytopenia, ascites, marrow fibrosis, renal dysfunction, organomegaly)
It is a relatively rare haematological cancer which initially presents with disorder of other organ systems and remains undiagnosed for a long time. Patients usually have a history of frequent allergic reactions, anaphylaxis, dry flushing, syncope, abdominal cramping, episodic diarrhoea etc. Diagnosis is usually done by bone marrow biopsy with special staining and molecular tests. Severity ranges from mild disease to aggressive fatal condition. Targeted therapy is now available in form of midostaurin. Overall outcome remains poor for aggressive forms – even after bone marrow transplantation.
Langerhans Cell Histiocytosis (LCH):
It is a malignancy of histiocytes. It is often present with bone pain, skin lesions and multi organ involvement. Diagnosis is done by bone marrow biopsy. Disease without risk organ can be cured by induction and maintenance chemotherapy.
Hemophagocytic lymph histiocytosis (HLH):
HLH is a disorder of NK/T cells dysfunction. It can be primary due to genetic causes or due to secondary to infection/inflammation/neoplastic causes. Secondary causes are more common. Usually, patient presents with symptoms of underlying disorder. Investigations reveal pancytopenia, splenomegaly and raised serum ferritin. Treatment is done by special HLH protocol, underlying disorder. It also may require bone marrow transplantation.